1.
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: ; Format:
print
Publisher: 2014Dissertation note: Abstract Availability: Items available for loan: UVAS Library [Call number: 1906,T] (1).
2.
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: ; 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).
3.
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: ; 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).
4.
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: ; 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).
5.
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: ; 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).
6.
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: ; 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).
7.
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: ; 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).
