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1. Molecular Epidemiology Of Subclinical Tuberculosis In Peri-Urban Human Population Of Lahore.

by Sadeem Shahzad | Dr. Muhammad Yasir Zahoor | Dr. Muhammad | Prof. Dr. Tahir Yaqub.

Material type: book Book; Format: print ; Literary form: drama Publisher: 2013Dissertation note: Tuberculosis (TB) is known to be a major health problem worldwide causing disease among millions of people every year. Major cause of tuberculosis in human is the infection with M.tuberculosiswhich usually causes pulmonary or lungs TB but an unknown number of patients are also infected with M.bovis which causes tuberculosis in humans as zoonotic agent along with its major hosts like cattle and deer. In developing countries where raw milk is used without pasteurisation there is a heavy risk of tuberculosis infection with M.bovis. TB infection with M.bovis mainly appears as extra pulmonary tuberculosis with and without specific symptoms of the disease.Diagnosis of subclinical asymptomatic tuberculosis and that of extra pulmonary tuberculosis is a difficult task and most of the time disease remains undiagnosed or misdiagnosed due to the unavailability of specific and sensitive diagnostic tool to diagnose the disease at early stage. Moreover prevalence of M.bovisinfection is not properly known. This study was designed to measure the diagnostic value of Interferon gamma release assay (IGRA) for early and reliable diagnosis of subclinical extra pulmonary TB along with the molecular epidemiology of subclinical extra pulmonary TB to check the prevalence of M.bovisinfection. IGRA is a latest blood test with high specificity and sensitivity based on the principle of Interferon gamma released by effector T-Cell when exposed to M.tuberculosis antigens like ESAT-6 and CFP-10 in controlled in-vitro conditions. Eighty patients were selected for the study on the bases of the history of having day to day cattle contact along with feelings of sickness. Biopsy tissue samples of all the patients which were positive with IGRA were requested, however 24 out of 27 positive samples were collected and were first examined histologically. Twenty seven samples out of eighty were found positive with IGRA while 22 out of 24 samples were confirmed by histological examination as infected with MTB. Both IGRA and histological examination are unable todifferentiate between the specie specific infection with M.tuberculosis orM.bovis for which differential amplification of specific fragments of bothof the species was done by running a multiplex PCR using M.tuberculosis specific 185 bp pncA product and M.bovis specific 500 bp segment. Genomic DNA was extracted from previously formalin fixed paraffin embedded (FFPE) tissues which requires pretreatment for deparaffinization. Xylene was used as deparaffinization agent. All of the twenty two samples positive with IGRA and histological study were found positive for M.tuberculosis infection and none of the sample was found positive for M.bovis infection. Results showeda close correlation among all three techniques with their specific benefits and limitations. Study concluded that T.Spot TB (IGRA) is a potentially reliable test for the diagnosis of subclinical, extrapulmonary TB.Formalin Fixed Paraffin Embedded (FFPE) tissues may be used for TB diagnosis and other DNA based researches. Duplex PCR is a reliable technique for differential diagnosis of infection with different species of MTB complex, though none of the sample was found positive for M.boviswhich is may be due to small sample size of the study and it may further be studied in future researches. The research findings will help the clinicians to depend on IGRA testing for timely and reliable diagnosis of extrapulmonary subclinical tuberculosis and potential use of FFPE tissue samples as appropriate specimen for molecular based diagnosis of TB. Further studies are however, required to check the prevalence of M.bovis infection byincreasing sample size. Availability: Items available for loan: UVAS Library [Call number: 1621,T] (1).

2. The Study Of Retinoblastoma (Rb) Gene Mutations Involved In Different Types Of Cancers In Dogs And Cats.

by Siddra Pervaiz | Dr. Muhammad Wasim | Dr. Muhammad | Dr. Muhammad Yasir Zahoor.

Material type: book Book; Format: print ; Literary form: not fiction Publisher: 2013Dissertation note: Abstract Availability: Items available for loan: UVAS Library [Call number: 1632,T] (1).

3. Dna Quantification Of Blood Stains Recovered From Washed Fabrics

by Zeenat Salah-ud-din | Dr. Muhammad Yasir Zahoor | Dr. Muhammad | Dr. Muhammad Wasim.

Material type: book Book; Format: print ; Literary form: drama Publisher: 2013Dissertation note: Bloodstains are extremely important forensic evidences for DNA profiling. Bloodstains recovered at crime scene can help to identify and confirm the credentials of the victim. Criminal can make all efforts to destroy and hide possible evidence at crime scene therefore these bloodstains on the crime place can hardly provide any evidence against the culprit. The criminal will try to take away or change clothes with the bloodstains of the victim. Once perpetrator has removed the bloodstains, culprit will feel secure and satisfied. But as a suspect if clothes are recovered with washed bloodstains and forensic evidence of DNA of the victim can be recovered from the washed clothes and can provide strong evidence against suspect. Present study has been planned to quantiate DNA from 10 different types of bloodstained fabrics with possible ways of washing to hide the blood from fabrics. 100 ìl of preservative blood was used in creating blood spot on fabric. After that dried bloodstained fabrics were hand washed with tap water and in detergent for 5 and 10mins and air dried at room temperature (25°C- 30°C) in laboratory. DNA was extracted through Chelex® 100 extraction procedure from these fabrics and analyzed on Real time PCR kit i.e. Quantifiler™ Human DNA Quantification kit which is specific for Human DNA. Research study showed there was no statistically significant difference in DNA concentrations among different washing methods (p-value = 0.318). There was statistically significant difference in DNA concentrations among different types of fabrics divided into two categories (p-value = 0.001, 0.002). Research findings showed that cellulose fibers recovered highest quantity of DNA, followed by artificial fibers and then protein fibers (cellulose >artificial>protein fiber) despite their washing methods. Thus provides a lead in solving such type of criminal cases. Availability: Items available for loan: UVAS Library [Call number: 1663,T] (1).

4. Deoxyribo Nucleic Acid Extraction & Qantification From Human Saliva Deposited On Fruits With Human Bite

by Shahid Nazir | Dr. Muhammad Wasim | Dr. Muhammad Yasir Zahoor | Ms. Faiza.

Material type: book Book; Format: print ; Literary form: drama Publisher: 2013Dissertation note: Abstract Availability: Items available for loan: UVAS Library [Call number: 1717,T] (1).

5. Molecular Characterization Of Cldn 14 Gene Encoding A Cell Tight Junction Protein In Mouse

by Ihsan Ullah | Dr. Muhammad Yasir zahoor | Dr. Wasim Shehzad | Ms. Shagufta.

Material type: book Book; Format: print Publisher: 2014Dissertation note: Abstract Availability: Items available for loan: UVAS Library [Call number: 1906,T] (1).

6. Molecular Diversity Of Fumaryl Acetoacetate Hydrolase Gene In Mammalian Species

by Sadaqat ijaz | Dr. Muhammad yasir zahoor | DR. Muhammad Imran.

Material type: book Book; Format: print Publisher: 2014Dissertation note: The present study has been planned to study the pathogenicity of FAdv-4 by inoculation of different age groups of broiler birds through different parenteral routes and oronasal routes. The liver homogenate suspension prepared from infected liver samples and cell culture propagated infectious agents were used to infect the susceptible broiler birds via parenteral routes and through oronasal routes. For this purpose two experiments were designed as Experiment I and II. In Experiment I the 25-day-old broiler birds were inoculated with different dilutions of liver homogenate and cell culture propagated HPS virus through intramuscular (i/m) and oral routes. Similarly in Experiment II the one-day-old, 1-week-old, 2-week-old, 3-week-old and 4-week-old broiler chickens were inoculated with the original dilution (100) of same liver homogenate and cell culture propagated HPS virus through S/C and oral route. The birds were kept under observation for recording morbidity and mortality. In Experiment I the liver homogenate caused 64% mortality in broiler birds of the Group A through intramuscular route, while 33.33% mortality in broiler birds of Group B through oral route. The cell culture propagated HPS virus caused 60% and 13.33% mortality in broiler birds of Group C and D through intramuscular and oral routes, respectively. In Experiment II none of the day-old-chick died from Group A inoculated with liver homogenate and cell culture propagated HPS virus through s/c and oral route. The liver homogenate and cell culture propagated HPS virus caused high mortality in different age groups of broiler birds through s/c route than oral route. The blood samples were collected from the broiler birds before and after infection and various hematological parameters such as Hemoglobin and packed cell volumes were studied. The values of hemoglobin and packed cell volume showed highly significant (P<0.05) reduction indicating anaemia. The values of hemoglobin and packed cell volume of the broiler birds inoculated with infectious liver homogenate showed highly significant reduction than the birds inoculated with cell culture propagated HPS virus. The results indicated that the liver homogenate is more pathogenic than cell culture propagated HPS virus. There changes may be due to adoptability of the original FAdVs after continued passages in the culture of chicken embryo liver cells. Availability: Items available for loan: UVAS Library [Call number: 0946,T] (1).

7. Molecular Phylogeny And Diversity Analysis Of Gazella Bennettii (Chinkara) Deer Of Pakistan Using D- Loop Region Of Mitochondrial DNA

by Maleekah zaheer | Dr. Muhammad yasir zahoor | DR. Ali raza awan | Miss. Faiza.

Material type: book Book; Format: print ; Literary form: not fiction Publisher: 2014Dissertation note: Abstract Availability: Items available for loan: UVAS Library [Call number: 1985,T] (1).

8. Analysis Of Epidermal Growth Factor Receptor Gene Polymorphism Implicated In Tumors Including Oralsquamous Cell

by Noveen nawaz | Dr. Muhammad Wasim | Dr. Muhammad | Dr. Muhammad Yasir zahoor.

Material type: book Book; Format: print Publisher: 2014Dissertation note: Abstract Availability: Items available for loan: UVAS Library [Call number: 1998,T] (1).

9. Molecular Analysis Of Mitochondrial Hypervariable Region In Three Consecutive Generations Of Buffalo

by Zara zaheer | Dr. Muhammad Yasir zahoor | Dr. MUhammad Imran | MR. Tariq.

Material type: book Book; Format: print ; Literary form: not fiction Publisher: 2014Dissertation note: Abstract Availability: Items available for loan: UVAS Library [Call number: 2003,T] (1).

10. In- Silico Functional Prediction Of Prion Protein Polymorphisms In Bovine Spongiform Encephalopathy

by Sana jafar | DR. Nuhammad imran | Dr. Muhammad yasir zahoor | Ms. Faiza.

Material type: book Book; Format: print Publisher: 2014Dissertation note: Abstract Availability: Items available for loan: UVAS Library [Call number: 2011,T] (1).

11. In Silico Functional Prediction Of Prion Protein Polymorphisms In Chronic Qasting Disease

by Iqra khizar | DR. Muhammad imran | Dr. Muhammad | Dr. Muhammad yasir zahoor.

Material type: book Book; Format: print ; Literary form: not fiction Publisher: 2014Dissertation note: Abstract Availability: Items available for loan: UVAS Library [Call number: 2024,T] (1).

12. Allele Frequency Distribution Of 15 Star Loci In Gujjar Cast Of Punjab Pakistan

by Maira shakoor | Dr. Muhammad Yasir zahoor | Dr. Tanveer hussain | Ms. Shagufta.

Material type: book Book; Format: print ; Literary form: not fiction Publisher: 2014Dissertation note: Abstract Availability: Items available for loan: UVAS Library [Call number: 2077,T] (1).

13. Genetic Characterization Of Pakistani Wild Quails Using Mitochondrial Coi Gene

by Wajiha Shakil (2012-VA-817) | Dr. Ali Raza Awan | Dr. Muhammad Yasir Zahoor | Prof. Dr. Tahir Yaqub.

Material type: book Book; Literary form: not fiction Publisher: 2015Dissertation note: A latest taxonomic tool termed as DNA barcoding is being used to genetically characterize animals. DNA barcoding is helpful in determining evolutionary relationship among species. Being a small sized genome and agile enough to show rapid mutation, mtDNA has been used as a pertinent marker of molecular biodiversity. DNA barcode works as an efficient tool in food manufacturing industry, diet investigation, forensics analysis, preventing unlawful trade and felonious poaching. The aim of this study was to develop DNA barcode for genetic characterization of Pakistani wild quail. Pakistani wild quail is important due to its demand for eggs, meat production, experimental purposes and gaming as well. Japanese quail was also included in this study because this quail is excessively produced in Pakistani farms. Japanese quail is present throughout the year and is comparatively bigger in size than wild quail. It has longer lifespan; farmers can easily breed this species in farms. It is suitable in poultry due to better meat yield. COI gene (500bp) was used as a molecular marker for identification at species level. DNA was extracted from blood samples of ten wild quails (Coturnix coturnix and fifteen japanese quails (Coturnix japonica). Reported bird universal primers were used to amplify COI region from the extracted mtDNA samples using PCR. Amplicon were then sequenced by Sanger sequencing method (Sanger et al. 1977). Forward and reverse DNA Sequences were aligned with the reference sequence using nucleotide BLAST on NCBI to observe the dissimilarity among the sequences. Consensus sequences generated were used to construct their phylogenetic tree to see their evolutionary relationship with other bird species. Japanese quail which is thought to be domesticated from Japan, its Pakistani population showed close relation with sequences Summary 90 generated in Japan for this particular species. Pakistani wild quail species showed its closest linkage with C. coturnix. In conclusion, COI barcode proved as an authentic tool for species identification and phylogenetic inference of Pakistani wild and farm grown quails. Wild quail species has been characterized using partial COI gene sequences. This study has provided a specific genetic marker which can differentiate Japanese quail from wild quail at molecular level as most of the time both species are confused with each other. It can be helpful to the farmers and bird fanciers because they can select the birds of their choice correctly. This is the first study reporting DNA barcode of this Pakistani quail species. It would help researchers to study about phylogenetic and taxonomic status and also assist quail fanciers and quail farmers to unaffectedly identify their species of interest in farming. Identification of quail species is also important for conservation of biodiversity as it helps in preservation and identification of endangered species by generating their barcodes from even minimal evidence available. Availability: Items available for loan: UVAS Library [Call number: 2311-T] (1).

14. Prevalence And Risk Analysis Of Coxiella Burnetii In Soil Of Faisalabad And Gujranwala Districts

by Zia Ul Hasnain (2007-VA-290) | Dr. Muhammad Zubair Shabbir | Dr. Arfan Ahmed | Dr. Muhammad Yasir Zahoor.

Material type: book Book; Literary form: not fiction Publisher: 2015Dissertation note: Coxiella burnetii is a causative agent of Q-fever, a widespread zoonosis. The effective adaptation of C. burnetii to intracellular existence is in contrast with its ability to survive in the environment outside the host cells and its resistance to chemical and physical agents. Besides nutrients and minerals, soil is aggregate of number of pathogens. Many of those organisms are of zoontoic importance and have significant threat to public health. One of these is Coxiella burnetii that has been reported from other countries including the neighboring to Pakistan. Its occurrence in soil, clinical significance and importance to human and animal health has been reported; nevertheless nothing is known of C. burnetii in Pakistan particularly in rural setup where human and animals are in close proximity to each other as well as the fact that how different risk factors can be implicated in its spread and survival in the soil. PCR helps to identify the organism on the basis of its genome and it is highly preferable over other conventional detection assays. Soil borne C. burnetii has not shown any association with different risk factors. The factors include presence or absence of pathogens with or without animal interaction, distance from animal market, main road, canal, animal and human density in a village under study. PCR technique was used to identify C. burnetii in the soils of Faisalabad and Gujranwala district. Soil samples (n= 730) were collected from each village of the both districts and processed for genome extraction using commercial soil DNA extraction kit. The extracted DNA from the soil samples was run further for PCR analysis of transposase IS1111a followed by standard gel electrophoresis technique. Only 6 (0.82%) samples were positive out of 730. Furthermore pathogens prevalence was geographically mapped in relation to roads, canals, -----------------------------------------------------------------------------------------------------------------------Summary 45 rivers, drains, animal and human population to determine the risk areas according to intensity of identified pathogens for both districts. Odd Ratio was calculated to access the association in terms of absence or presence of pathogens with particular risk factors, which did not show any kind of association between pathogen and risk factors. The phylogenetic analysis of C. burnetii shows different convergence percentage with the isolates of worldwide i.e., Namibia (99.53%), Brazil (100%), Taiwan (99.53%), India (99.07%). Study was contributed to understand about the previously unrevealed prevalence of C. burnetii in soil of district Gujranwala and Faisalabad together with risk factor analysis implicating possible health significance as well as survival in the soil. Availability: Items available for loan: UVAS Library [Call number: 2312-T] (1).

15. Analysis Of Genetic Polymorphism In Exon 6 & 11 Of Glucosidase Beta Acid (Gba) Gene In Gaucher Diseased Patients From Punjab, Pakistan

by Aysha Arshad (2009-VA-571) | Dr. Muhammad Yasir Zahoor | Dr. Muhammad Imran | Dr. Imran Altaf.

Material type: book Book; Format: print ; Literary form: not fiction Publisher: 2015Dissertation note: Gaucher disease (GD) is amajor predominant heterogenic, inherited and metabolic lysosomal storage disorder. It is prompted by an alteration in glucosidase acid beta (GBA) gene. GBA gene encodes a 497 amino acid glucocerebrosidase enzyme. It is a lysosomal hydrolase, present in all mammalian cells membrane that carries the catalysis of complex ubiquitous sphingolipids called glucocerebrosides (GlcCer) into smaller and simpler molecules of sugar and ceramide. The human glucocereborside (GBA) gene is present in highly gene dense area on q arm of 21 chromosome and its fragment length is 7.8kb comprising of 11 exons. A pseudogene is also present in vicinity of GBA gene which shares 96% homology of sequence with functional gene. Genetic recombination and gene conversion among these two GBA genes are responsible for 10-20% GD mutations. >300 mutations of GBA have been described till 2014. GD has three different clinical forms depend on its heterogeneity. These are characterized by the age of onset and with or without the participation of CNS. In this study, 10 blood samples were collected of GD patients from repository at Molecular and Genomic Laboratory located at IBBT department, UVAS Lahore and from Children Hospital Lahore. DNA extraction was done by using organic method from blood samples. Amplification of GBA gene exons 1, 6 and 11 was performed using PCR. PCR products were sequenced using Sanger di-deoxy sequencing method. Different bioinformatics tools were applied for the sequence analysis of exon 1, 6 and 11. We found two variants of GBA gene. A deletion of CT nucleotide repeat in intron 1 was found. We also found a substitutional change of nucleotide T>A in intron 8. Availability: Items available for loan: UVAS Library [Call number: 2334-T] (1).

16. The Variability Analysis of The Gene Encoding HCV Non-Structural Protein NS2

by Abdul Rehman (2009-VA-546) | Dr. M. Imran | Dr. Muhammad Yasir Zahoor | Ms. Faiza Masood.

Material type: book Book; Literary form: not fiction Publisher: 2015Dissertation note: Theses submitted with blank cd. Availability: Items available for loan: UVAS Library [Call number: 2337-T] (1).

17. Mutational Analysis of CaSR in Calcium Nephrolithiasis Affected Pakistani Families

by Asad Tufail (2013-VA-558) | Dr. Muhammad Yasir Zahoor.

Material type: book Book; Literary form: not fiction Publisher: 2015Dissertation note: Thesis submitted with blank cd. Availability: Items available for loan: UVAS Library [Call number: 2343-T] (1).

18. Mapping The Genetic Diversity Of The Populations Of Cirrhinus Mrigala Through Mitochondrial Atpase 6/8 Genes From Indus Riverine System Of Pakistan

by Noor Muhammad (2014-VA-543) | Dr. Fayyaz Rasool | Mrs. Shakeela Parveen | Dr. Muhammad Yasir Zahoor.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: This study was mapping the genetic diversity of Cirrhinus mrigala by using molecular markers for the ATPase 6/8 gene region. Samples of the target fish specie were collected from the different sites at the Indus riverine system of the Pakistan i.e Chenab (Head Qadirabad), Jhelum(Head Rasul), Ravi(Head Balloki) and Indus (Head Taunsa). Morphommetric parameters viz., Body weight, Girth, Total Length, Fork Length,Head length, Lengths of Caudal, Pectoral, Ventral Fins were recorded manually using measuring scale. After recording morphometric parameters blood from fish samples was drawn from caudal fin of the Fish, collected in Vautainer and immediately transferred into the Lab of IBBT where it is preserved in -80C for future use in DNA extraction. Phenol Chloroform Method of Genomic DNA extraction was used to extract whole blood DNA. The extracted DNA of the samples was run on 0.8% agarose gel by using electrophoresis of the DNA. Nanodrop was used to find out the concentration of DNA after that DNA was diluted according to the Need with deionized water. The PCR of ATPase 6/8 primers were used to amplify the target gene. The PCR product was confirm on 1.2% agarose gel. These gels were visualized in UV light and photographs were taken by Gel Documentation System (BIO-RAD, Gel-DOC EZ imager). After the visualizing of quality of band confirmation the samples were sent to be sequencing. The Analysis of Variance (ANOVA) for the different morphometric parameters was done by XLSTAT 2012 version 1.02. ANOVA results showed that all the morphomteric parameters were highly significant (p<0.01) within as well as between the groups. Pearson correlation analysis off overall population show that the body weight is positively correlated with the Fork Length, Total Length, Ventral Fin length, caudal Fin Length, Girth, with significant difference. Fork length is positively correlated with Total length, Ventral Fin Length, Caudal Fin length, Pectoral Fin Length, with significant difference among other parameters. Total Length is positively correlated with Girth, Pectoral Fin Length, Ventral Fin Length, Caudal Fin Length, Girth, and Weight with significant difference among them. NJ methods suggested that existed relationship among different species located at different geographical locations. They all have a common ancestry. A strong relationship exists between fish species collected from different locations at Indus riverine system of Pakistan. Availability: Items available for loan: UVAS Library [Call number: 2479-T] (1).

19. Genetic Polymorphism Of Prss12 Gene Responsible For Cognitive Dysfunction And Its Homology Analysis With Canine

by Hafsa Amjad (2014-VA-776) | Dr. Muhammad Yasir Zahoor | Dr. Muhammad Imran | Mr. Shahid Abass.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: Neurotrypsin a multi domain serine protease predominantly expressed in brain is considered to be involved in cognition by the establishment and maintenance of synapses in mammals. Mutations in PRSS12 gene have been reported for cognitive disability in Algerian family. In present study, DNA of 10 enrolled non-relative cognitive dysfunctioned patients was extracted through organic method. The normal individual samples of siblings and parents of relevant families was also included in this study as control. This amplification exon 7 of PRSS12 was done after designing primer by using Primer3 software. Exons was sequenced by using BigDye Terminator Cycle Sequencing Ready Kit(Perkin Elmer/ABI) and read in automated sequener, ABI Prism model 3730 (Perkin Elmer). No significant mutation was identified in affected individuals. Computational comparative sequence analysis tools were used for the nucleotide and amino acid sequences to predict the homology in PRSS12 gene among mammals of well-developed cognition. PROSITE domain database search was performed to determine domain organization and Phyre software was used to develop secondary structural features and 3D protein models and ReptroX for multiple sequence alignment of tertiary structures. Using the generated alignments highly conserved regions in primary and secondary structures of neurotrypsin in mammals were identified. Phylogenetic analysis indicated highest similarity of human PRSS12 with non-human primates (chimpanzee, orangutan and monkey) followed by Catecians, Felis, and Canine evolving from the same ancestor. The predicted domain architecture shows the neurotrypsin consisting of kringle domain, four scavenger receptor cysteine-rich CHAPTER 6 SUMMARY Summary 68 domains and a serine protease domain named trypsin. Whereas mouse consists of only three scavenger receptor cysteine-rich domain. Prediction and comparison of domains in mammals indicated that primates and catecians protein domains have high similarity with humans. Computational analysis by using animal models can aid in evolutionary studies and. understanding the role of neurotrypsin in cognition. Availability: Items available for loan: UVAS Library [Call number: 2498-T] (1).

20. Biochemical And Homology Analysis Of Jak2 Gene In Canines And Hominidae

by Marya Saadullah Khan (2014-VA-324) | Ms. Huma Mujahid | Dr. Abu Saeed Hashmi | Dr. Muhammad Yasir Zahoor.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: Cancers are considered to be the most lethal of all diseases known out of which myeloproliferative neoplasms comprise of a very little percentage.The frequency of these disorders is known in human beings and a lot of work has been done on humans. But there is a lot of scope for research on this area in canines. As dogs were found to have strong homology with human beings, we compared canine cJAK2 exon 13 sequence with the humanhJAK2 exon 13 and found 96 % homology. Mutations in JAK2 gene are well known to cause three types of disorders i.e. polycythemia vera caused by a well-known point mutation in exon 14 causing substitution of valine for phenylalanine in JH2 domain of the protein.Essential thrombocythemia and idiopathic myelofibrosis may also be caused by this mutation but similar clinical conditions arise without the presence of this mutation. Studies have revealed that other point mutations such as deletion, addition or substitution are also responsible for these disorders. JAK2 is an intracellular protein which performs phosphorylation of STAT molecules upon their activation. Although the whole protein in its good state is important for its function but the two domains JH1 and JH2 are vital. JH1 domain acts as a tyrosine kinase enzyme and its activity is controlled by JH2 domain also known as pseudo tyrosine kinase domain. Any mutation in these domains leads to protein conformation defect and thus prevents its performance. Besides V617F mutation, other mutations are being discovered in this part of gene. Researchers have found mutations in exon 12, 13 and 15 that have been found to be involved in development of myeloproliferative neoplasms in different cases of patients. Blood picture do not reveal any direct clue except for increased erythrocytes alone or along with other cells like increased platelets. Therefore blood indices are not reliable parameter to indicate the type of mutation involved in these disorders. Also LDH and EPO levels are not correlated with the disorder. Although EPO test must be done to exclude the possibility of secondary PV and erythropoiesis. Availability: Items available for loan: UVAS Library [Call number: 2544-T] (1).

21. Identification Of Genetic Variants In The Low Density Lipoprotein Receptor Gene Causing Familial Hypercholesterolemia And Its Sequence Homology With Mus Musculus

by Ameer Hassan (2014-VA-504) | Dr. Wasim Shehzad | Dr. Muhammad Yasir Zahoor | Dr. Muhammad Tayyab.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: Familial hypercholesterolemia (FH) is caused by mutations in the genes coding for the low-density lipoprotein receptor (LDLR), apolipoprotein B-100, or proprotein convertase subtilisin/kexin type 9 (PCSK9). In this study, a molecular analysis of LDLR gene was performed in 20 unrelated patients from Pakistan. All patients were clinically diagnosed with definite or possible hypercholesterolemia according to a uniform protocol and internationally accepted WHO criteria. Preferable study was made to highlight the Genetic variation in Exon 4 of LDLR gene associated with defective catabolism of cholesterol effecting lipid metabolism which results in Familial Hypercholesterolemia. The extraction of genomic DNA was done from all selected blood samples. By selecting primers they were synthesized and optimized on extracted DNA samples. PCR product was sequenced and aligned. Mutations in the LDLR gene and its sequenced homology with Mus musculus were analyzed. We didn’t found any polymorphisms in the LDLR gene exon 4. So we concluded that there is no association between SNPs and increased levels of cholesterol in Pakistani population. More research should be carried out in Pakistan by increasing the sample size and considering the other regions of LDLR gene. This study will help the early detection and treatment of such cases and may ultimately reduce the incidence of mortality due to myocardial infarction. Apart from diagnosis, we also suggest it will be a potential therapeutic strategy to manage FH. Availability: Items available for loan: UVAS Library [Call number: 2538-T] (1).

22. Assessment Ofgenetic Polymorphism In The Tph Gene As Susceptible Factor For Aggressive Behavior In Criminals From Prisonsof Punjab, Pakistan

by Zonash Riaz (2010-VA-479) | Dr. Saadat Ali | Dr. Muhammad Yasir Zahoor | Dr. Wasim Shehzad.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: Aggression is perceived as hostile, injurious, or destructive behavior often caused by frustration, can be collective or individual. Genetic studies have associated several genes with aggression in humans. One of the candidate genes that turned out to be associated with aggression, anger, and impulsivity is the tryptophan hydroxylase (TPH) gene. We investigated the polymorphism in the TPH gene in the unrelated male individuals in the Punjab ethnic backgrounds who were administered the Punjabi translation of Buss and Perry aggression questionnaire. The questionnaire measured four aspects of aggression: physical aggression, verbal aggression, anger and hostility (Buss and Perry, 1992).Scores ± SD of 83.544± 26.63 was obtained for Buss and Perry aggression questionnaire. TPH is a rate-limiting biosynthetic enzyme in the serotonin pathway and regulates levels of 5-hydroxytryptophan (5-HT) by converting tryptophan into 5-hydroxytryptophan, which is the direct precursor of 5-HT. It is conceivable that variations in the TPH gene could contribute to low activity of the 5-HT system. Single nucleotide polymorphisms (SNPs) that show associations to aggression and anger-related traits have been detected in intron 7 of TPH gene.DNA of individuals categorized into controls and criminal groups was extracted by organic method of DNA extraction.The targeted region of the TPH gene was amplified by the primers designed against intron seven. The amplified Pcr product was precipitated and it was sent for sequencing. The resultant sequenced data was then compared on the basis of Buss and Perry aggression scores. All unrelated male individuals from the Punjab ethnic groups were assessed on the scales showing scores for physical aggression, verbal aggression, anger and hostility. The minimum score for the respondents were 65 and highest score for the respondents were 135 among the criminal group while control have minimum scores of 50 and maximum scores of 113.Mean scores and standard deviations were calculated for criminals and control groups. Control group havephysical aggressionmean scores ± SD19.318 ± 6.21, verbal aggressionmean scores ± SD17.590± 4.41,angermean scores ± SD23 ± 6.868and hostility mean scores ± SD23.636± 9.12and total mean scores ± SD83.544± 26.63while criminals have physical aggressionmean scores ± SD28.2±8.134, verbal aggressionmean scores ± SD20.4±4.427, anger mean scores ± SD27.3±6.97and hostilitymean scores ± SD28.1±7.72and totalmean scores ± SD04.2±20.47.Mean aggression values for the criminals was 104 and for controls was 83, higher in criminals as expected. Criminals groups exhibited greater level of aggression as compared to that of control groups on the basis of four scales of aggression i.e. physical aggression, verbal aggression, anger and hostility. Observed genotypic frequencies among the control groups were 0.7 for CC, 0.3 for the AC and 0 for AA whereas genotypic frequencies amongst criminal group were 0.3 for CC, 0.6 for AC and 0.1 for AA. Controls carried higher genotypic frequencies for normal CC genotype than criminals whereas the genotypic frequencies for AA and AC genotypes were higher in Criminal group.Observed allelic frequencies amongst the control group was 0.8 for C and 0.15 for A whereas observed allelic frequencies amongst the criminal group was 0.4 for A and 0.6 for C. Controls carried higher allelic frequencies for the normal C allele while criminals carried higher allelic frequencies for A allele.In our study proportion of the less common (A or U) alleles was 40%, and the proportion of the more common (C or L) alleles was 60% in criminal group as compared to 15% of A allele and 85% of C allele in the control group. Statistical analysis has associated significantly Criminals and controls group at P value less than 0.05. Advances in the understanding of the genes modulating aggression can contribute meaningfully to a rational assessment and treatment of individuals with pathological aggression and a predisposition to violence. Results can be utilized for the screening of Aggression in the individuals for forensic applications. In future studies, other polymorphism in TPH and other aggression related genes may also be analysed in Pakistani population. Availability: Items available for loan: UVAS Library [Call number: 2595-T] (1).

23. Genetic Analysis Of Slc24a5 Polymorphism In Pakistani Population, In Association With Human Skin Pigmentation As An Externally Visible Characteristic Parameter

by Asma Hameed (2008-VA-332) | Dr. Saadat Ali | Dr. Muhammad Yasir Zahoor | Dr. Muhammad Imran.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: Human skin pigmentation is a phenotypic trait that varies within a population or among different populations. In addition to the genetic factors, some of the diseases (may be genetic or epigenetic), exposure to UV or usage of cosmetics may also be involved in the pigmentation outlook. It is possible to predict human identity on the basis of DNA polymorphisms in the genes coding human phenotypic characteristics. In case of human skin pigmentation various genes are responsible to code variability among which SLC24A5 is an important contributor. This area of research is important in the field of forensic science in cases where reference samples are not available for comparison with the DNA profiles obtained from the crime scene evidence. SNPs in the coding region of exon3 (84bp) of SLC24A5 related to skin pigmentation (as reported in literature) are associated to a predictable variation in skin color in Pakistani Population. Blood samples (62) were collected from the participants having three types of skin coloration fair= 20, medium=22 and dark=20 from general population belonging to Punjab. Organic method (Phenol chloroform extraction method) of DNA extraction was used. After extraction DNA was quantified on nanodrop spectrophotometer. Primers for the exonic region 3 of SLC24A5 gene were designed using primer 3 software. PCR amplification of the selected region was done through touch down PCR. DNA after obtaining PCR products was purified and the samples were sequenced bi directionally on ABI 3130XL Genetic analyzer. The results of sequencing were analyzed using CHROMAS Lite 2.1 software. Sequence was converted into Fasta Format required for alignment study. Alignment tools like Blast were required for SNPs identification and comparison of all the sample sequences with the reference sequence. Mean color scores and mean ages of all the skin color groups were calculated separately in both male and female participants. Two types of genotypes were observed i.e, AA and AG. 24 out of the total sample size showed heterozygous peaks and confirmed the polymorphism also in Pakistani population at position 299 of the sequence. Difference between allelic and genotype frequency of studied gene were evaluated and by t test and association analysis to check out the significance of the studied data with the skin coloration was done and it was concluded that AA genotype is significantly associated with fair skin color in male and female population. Furthermore, AG genotype was significantly associated with dark skin coloration in female population. This type of study reveals that after the genetic analysis of the DNA obtained from the crime scene, prediction of skin color/hue of crime related individuals of fair skin color as well as dark skin color belonging to Pakistani Population can be made in those cases where reference samples are not available. So this can be used as a genotypic marker for screening out and forensic identification of individuals in various crime cases where reference samples are not available for comparison purposes and matching suspects. Availability: Items available for loan: UVAS Library [Call number: 2608-T] (1).

24. Molecular Characterization Of Oca2 Gene In Correlation With Eye Color For Forensic Application

by Anam Noor (2014-VA-942) | Dr. Muhammad Yasir Zahoor | Dr. Allah Rakha | Dr. Saadat Ali | Dr. Wasim Shehzad.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: DNA phenotyping is the use of genetic information such as DNA to determine a phenotype. It helps forensic investigator to predict the physical appearance of an individual to find unknown perpetrators or to identify missing persons using molecular analyses from biological samples in cases where all other means of inquiry, including conventional DNA profiling are non-informative. In a non-forensic setting, it permits the prediction of the physical appearance of our ancestors, historical persons or any other deceased individual for whom the identification of appearance traits may be interesting, and it sheds light on human evolution. Based on current research there are only a few traits for which it is possible to make an accurate description based on underlying genetic variation. Eye color is a complex polygenic trait and is under the control of many genes. There are infinite number of eye colors with a multitude of patterns and mixtures. Almost 74% human eye color is under the control of OCA2 gene on chromosome 15. This gene correlates with the physical appearance of eye color as EVCs (externally visible characteristics) therefore it can be used as a parameter in forensic application. Samples collected from local areas of Pakistan is divided into two groups brown that include samples from 17 individuals and other than brown including 15 individuals. DNA of 32 samples was extracted and samples were amplified against a selected sequence of OCA2 gene containing SNP rs1800407, which was previously reported to be associated with eye color in European populations. These amplicons were sequenced using Sanger sequencing and chromatograms obtained were analyzed by pairwise and multiple alignment tools. The results show the presence of5 polymorphic sitesin various samples including SNPsrs1800407 and rs1900758. These polymorphic sites were further analyzed by applying t-test which shows no significant association between retrieved polymorphic sites and eye color.The results show no significantly associated marker with eye color to be present within the selected sequence so we need to analyze other markers or SNPs which could be found to be associated with eye color that would be very useful in forensics application. Availability: Items available for loan: UVAS Library [Call number: 2623-T] (1).

25. Microbiome Analysis Of Human Normal Specific Flora From Skin Of Laborers And Academic Professionals Of Lahore For Forensic Application

by Talha Umair (2014-VA-941) | Dr. Wasim Shehzad | Dr. Saadat Ali | Dr. Muhammad Yasir Zahoor.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: Human microbiota or normal flora is the aggregate of microorganisms that resides on the surface of skin, oral mucosa, conjunctiva and GIT. Human skin has a complex variety of microbial system and varieties of microbes mean that they are potential source of forensic identification because human microbiome varies individual to individual due to differences in hygiene, professions and region to region because of some environmental factors and microbial flora can shed more frequently upon touching any kind of surfaces and microbes are left for long time at any surface so can be identified easily. Human microbiota varies individual to individual so it may become potential source for forensic identification of individuals through specific microbiome analysis. Fourty Samples were obtained by swabbing from the palm surfaces of hands and soles of feet of individuals of different professional groups in order to recover bacterial communities. Bacterial culturing and Bacterial DNA extraction followed by the implementation of 16S rRNA amplification by polymerase chain reaction (PCR) and sequencing of the PCR product, allowed an even more comprehensive broad range investigation of bacterial communities. Bioinformatics analysis was done to compare microbial communities. This research elaborated the significance of skin microbial communities in identifying individuals and can be a major contribution in forensic science to find and identify individuals when there is less major evidence, i.e. human DNA and body fluids. Availability: Items available for loan: UVAS Library [Call number: 2639-T] (1).

26. Homology & Polymorphism Analysis Of Cc2d1a Gene In Human And Canine For Cognitive Function

by Hafiz Qamar Abbas (2014-VA-214) | Dr. Muhammad Yasir Zahoor | Dr. Wasim Shehzad | Dr. Saadat Ali.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: Cognitive disability is a group of genetically heterogeneous abnormality that leads to variable degrees of cognition deficits. It has been shown that inherited disorders can be caused by mutations in large number of different genes and there is evidence for the presence of as yet unknown genes in a significant proportion of patients. This disease can affect 1-3% of overall population and higher in consanguineous families. We aimed to identifying the homology and polymorphism of the gene CC2D1A between human and canines. The present research work was carried out in four phases. The first phase was including enrolment of 10 affected non relevant families with disease history and consent was taken on consent forms as approved by IRB, UVAS. Secondly DNA extraction was done by using standard lab protocols. Thirdly amplification of the selected domains of selected gene (CC2D1A) was done through PCR amplification after designing primers of the selected domains. Sequencing of the amplified products has to be done through Sanger method and mutation analysis was conducted for variants We found two new asynonymous mutation one is deletion of c. 1664_1664delA which lead to the change in the normal function of protein (88%) and other is heterozygous mutation c.1921A/T that result in amino acid change from R to W (12%). Whereas homology analysis shows that deletion region is partially conserved as it code different amino acid but some key domains are conserved. This homology shows that deletion in this region can change the protein expression which can relate to unconscious condition like behavioral or mental retardation. This will be helpful in providing genetic counseling services to indigenous population for intellectual disability cases. Availability: Items available for loan: UVAS Library [Call number: 2627-T] (1).

27. Epidemiology, Zoonotic Potential, Molecular Characterization And Therapeutic Trial Of Leptospirosis In Horses

by Muhammad Luqman Sohail (2007-VA-94) | Dr. Muhammad Avais | Dr. Muhammad Yasir Zahoor.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: Leptospirosis is an important zoonotic disease. It affects a wide range of mammals, fish and even a few reptiles. It is caused by Leptospira interrogans, having more than 250 serovars, distributed geographically throughout the world. In horses, Leptospira interrogans causes liver and renal abnormalities, ERU, and reproductive disorders in mares like abortion, perinatal death and still birth. It is transmitted to human beings, working with live or dead tissue of infected horses and through surfaces contaminated with urine of carrier or infected animals. In humans, it causes influenza like illness and death in severe cases. Serological testing, bacterial culture and molecular techniques are used for the diagnosis of disease. This study was aimed at estimating the seroprevalence of Leptospira spp. in horses and humans of three climatically distinct regions of Punjab, Pakistan. Furthermore, molecular biology techniques were employed for the confirmed diagnosis of equine leptospirosis and therapeutic efficacy of ampicillin and adhatoda vasica was analyzed against disease. It was the very first study in Pakistan conducted to explore equine leptospirosis in the country. During this study, 384 horse blood samples and epidemiological data were collected from three climatically distinct regions, viz;Rawalpindi, Lahore and Bahawalpur (128 from each study area) and were subjected to ELISA to determine seroprevalence of Leptospira. Results showed overall prevalence of 33.85% in Punjab with highest prevalence in Rawalpindi (40.62%) which experienced highest rainfall, followed by Lahore (38.28%), and least in Bahawalpur (22.65%). Risk factor analysis showed that age, gender, living area, herd size, water source, exposure to rodents and floods, feeding practices and usage of animals were found significantly associated with the disease. To study the seroprevalence of human leptospira, 360 human blood samples were collected (120 from each study area). Epidemiological data on pre-structured questionnaire Summary 140 were collected from all the participants of study. All the samples were subjected to ELISA and results showed overall prevalence of 40.83%, with highest seroprevalence in Rawalpindi (50.83%), followed by Lahore (38.28%) and least in Bahawalpur (27.50%). Age, gender, occupational and living area, water recreational activities, occupation, exposure to floods, educational status and history of wound were significantly associated risk factors while use of PPE during work was deterrent. During this study, 65 ELISA positive horse samples were subjected to molecular biology diagnostic technique PCR for the molecular characterization of equine leptospirosis in country. After DNA extraction, PCR was performed using primer sets specific for 16S rRNA gene, which yielded a fragment of length 306bp after gel electrophoresis. Out of 65 tested samples, 20 samples (30.76%) were PCR positive and was further sequenced and phylogenetic tree was constructed. Dendogram showed the sequenced samples were related to pathogenic Leptospira interrogans, revealing potential of 16S rRNA primer sets for the detection of eqine leptospirosis in country. Dendogram further showed closed resemblance of analyzed samples with serovar Icterohemmorhagae, Australis and Autumunalis which are dominant serovars in India, Iran and China, the neighboring countries of Pakistan. Therapeutic efficacy of ampicillin and AV was studied by analyzing the hematology, liver function test, renal function tests and serum mineral levels at day 0 (pre-treatment), 7, 21 and 35 (post-treatment). Results showed that all the tested parameters were changed significantly during infection and significant improvement was observed after treatment. Ampicillin was instrumental in revealing hematological abnormalities while AV played important role in normalizing the liver and renal insufficiency. After treatment ampicillin treated 58.33% of animals and AV treated 41.66% of animals. Summary 141 This first ever study of equine leptospirosis in country uncovers the high prevalence rates in horses and humans and raises a need for control strategies to prevent the transmission and spread of the disease. It also highlights the potential of molecular biology techniques for the confirmed diagnosis of equine leptospirosis and explores options for designing better specie specific treatment regimes for the disease. Availability: Items available for loan: UVAS Library [Call number: 2660-T] (1).

28. Immuno Protective Role Of Newcastle Disease Virus Vaccine (Lasota)Strainunder Immunosuppressive Confitions In Broilers Challanged With Ndv Isolates Of Chicken And Pigeon Orign

by Iqra Rauf (2011-va-403) | Dr. Irshad Hussain | Muhammad Aasad ali | Dr. Muhammad Yasir Zahoor.

Material type: book Book Publisher: 2017Dissertation note: CD Corrupt. Availability: Items available for loan: UVAS Library [Call number: 2831-T] (1).

29. Eye Color Prediction Using Snps Of Oca2 And Herc2 Genes In Different Eye Color Groups From Pakistani Population

by Iqra Baig (2015-VA-813) | Dr. Muhammad Yasir Zahoor | Dr. Saadat Ali | Dr. Amjad Riaz.

Material type: book Book; Format: print ; Literary form: not fiction Publisher: 2017Dissertation note: The outward appearance of living organism that can be visualized is known as External visible characteristic (EVCs). These are related to the interaction of different genes among themselves and with their environment. Through this technique police investigators or other forensic investigators determine perpetrators which are completely unknown to investigating authourities or to pinpoint missing persons utilizing biological samples in those situations where all other evidences of query, along with conventional DNA profiling give non-uniformities. Eye color is a multiplex trait controlled by many genes but the two major genes which play crucial role to determine eye color are OCA2 and HERC2 genes. 74% eye color of human is under the control of OCA2 gene and its function is influenced by HERC2 gene. These are present on chromosome 15. Eye color trait has miscellaneous inheritance pattern which does not obey simple pattern of Mendelian inheritance. Blood samples of 40 volunteers along with photographs of iris collected from local population of Pakistan by categorizing different eye colors. DNA was extracted using organic extraction method. Then amplified using PCR with primers of SNP rs1800401 of OCA2 gene and SNP rs12913832 of HERC2 gene. Primers were designed through primer 3 software. Amplicons were analyzed by gel electrophoresis. Samples were sequenced by Sanger sequencing and chromatograms were analyzed by pairwise and multiple alignment tools. We mapped five polymorphic sites in OCA2 gene including SNPs rs1800401 and rs10300271. Polymorphic sites of OCA2 are 89406 C>T, 89401 G>T, 894019 A>T, 89422 A>C and 89435 C>A. Six polymorphic sites of HERC2 also analyzed including SNP rs12913832 at 206678 T>C and other polymorphic sites are 206617delA, 206631delA, 206683 T>A, 206688delA and 206713delA. These polymorphic sites were further analyzed by applying t-test which shows no significant association between retrieved polymorphic sites and eye color except polymorphic site 89422 with genotype A>C in OCA2 gene (novel) and polymorphic site 206678 with genotype T>C in HERC2 gene (already reported) both are associated with non-brown eye color variation in our study. In conclusion, more research to DNA based human appearance prediction is recommended using large sample size as there are more SNPs also involve that would be very useful for identification or investigative leads in forensic future aspects. Availability: Items available for loan: UVAS Library [Call number: 2902-T] (1).

30. Study On Polymorphism Of Promoter Region Of Bovine Lactoferrin Gene And Its Relation With Mastitis In Nili Ravi Buffalo

by Muhammad Asim (2012-VA-636) | Dr. Sehrish Firyal | Dr. Muhammad Yasir Zahoor | Dr. Muhammad Tayyab.

Material type: book Book; Literary form: not fiction Publisher: 2017Dissertation note: Dairy animals in Pakistan and worldwide are facing most persistent and economically affecting disease mastitis. Only a healthy buffalo can produce good quality milk of physiologically normal composition. Mammary gland inflammation due to mastitis badly affects the quantity and quality of milk and this causes big loss to dairy industry. Even province Punjab bears economic losses of 240 million per annum due to mastitis. Susceptibility and resistance to mastitis is affected by the variation in immunity genes. Among immunity genes Lactoferrin (LF) have important role in immune defense system and perform antibacterial, antiviral and anti-inflammatory function. LF is found in most of body fluids like, milk, blood, tear, saliva, bile and mucous. Polymorphism in promoter region of Lactoferrin gene is associated with mastitis susceptibility and resistance. For screening of the mastitis susceptibility and resistance of dairy buffaloes, LF is a potential candidate gene. The present study was designed for the identification of polymorphism in LF gene associated with mastitis. Blood samples from 20 Nili Ravi buffalos having clinical and subclinical mastitis were selected. Blood samples of normal Nili Ravi buffalos were also collected. DNA was extracted; specific primers for amplification of LF gene were designed with Primer-3 software by using already reported sequence on NCBI. Amplification of LF gene performed by PCR and sequenced the amplicon. A comparative analysis of sequence result was performed by using NCBI BLAST. BioEdit software was used to perform multiple sequence alignment. Comparison analysis of LF gene promoter region shows multiple mutations in in clinical and subclinical as compare to reported sequence (accession no. EF650854) at NCBI. While normal samples sequence results are similar to reference data. These results show LF is a candidate gene for mastitis resistance. Availability: Items available for loan: UVAS Library [Call number: 2923-T] (1).

31. Identification Of Pkhd1 Gene Mutation In Polycystic Kidney Disease And In-Silico Molecular Characterization In Different Mammals

by Taslim Un Nisa (2015-VA-1105) | Dr. Wasim Shehzad | Dr Muhammad Yasir Zahoor | Prof.Dr. Aftab Ahmad Anjum.

Material type: book Book; Literary form: not fiction Publisher: 2017Dissertation note: Fibrocystin is a large, receptor-like protein that is involved in the tubulogenisis and maintenance of duct-lumen architecture of epithelium. Fibrocystin has a combination with the primary cilia of epithelial cell. Renal tubules (small tube) of kidney where urine is formed lined by tiny hair like projection. Twenty five suspected patient was selected and DNA extracted through organic extraction method from the suspected patient blood. Primers were designed PKHD1gene’s coding sequence located at 6p12.2 in human. The coding region sequenced using the ready mate terminator Sequencing Reaction Kit by Perkin Elmer/ABI and read in an automated sequencer. The allele’s variants have been only reported for Fibrocystin protein in human. All of the sequences are evaluated by using Chromas and Bioedit software for sequence analysis. The in-silico protein analysis is done for normal and mutated alleles through UCSC and RAPTROX. Homology analysis was also done between human and mammals DNA sequence. We found mutations which are associated with ARPKD disease and these variants are most common in other population whereas we also found some new variants. There are some reported mutations which we found in our study such as (c3790C>T),(c3891G>T),(c3790C>T). We found three new mutations in PKHD1 gene. The new mutations which we found are (c3681G>A),(c3804C>T),(c3931A>C).These mutations (c3790C>T) and (c3931A>C) in the exon 32 show significant effect on the gene and protein function. Geneticanalysis of PKHD1gene show thatPakistanifamilies have mutations as compared to other population along with some common exonic regions such as exon 32 whichisalsodescribed by others in two different studies.We also analyze the pedigrees of these patients which are consanguineous families and autosomal recessive polycystic disease. We found total six mutations in this gene including missense/ synonymous mutations. In which, three novel mutations and others are reported mutations. These variations from the results are due to the population and consanguineous families’ pattern.In our study, we also found that Mouse and Chickencan preferably be used as a modal organisms in pathology.This study will also help us in the development of molecular genetic testing for their detection in Pakistani families and population. Availability: Items available for loan: UVAS Library [Call number: 2941-T] (1).



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