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1. Mutation Screen Of "Gamma-Aminobutyric Acid (Gaba)-A Receptor, Gamma 2" In Punjab Population

by Muhammad Javed Iqbal | Dr. Muhammad Wasim | Dr. Abu Saeed | Dr. Ali Raza Awan.

Material type: book Book; Format: print ; Literary form: drama Publisher: 2012Dissertation note: Epilepsy is a formidable form of neural disorder that can impose its long lasting effect on person's life and development. To date, it lacks any effective therapy and is multistep disease strengthened by an overwhelming number of genetic and epigenetic mechanisms that streamline epileptic attacks. This particular study encompasses two major types of epilepsy, CAE and GTCS by targeting a GABRG2 gene. Mutation analysis of the coding exons (exon 3, 5 and 9) was performed by direct sequencing of GABRG2 in order to sought out complex biological entities in both types of epilepsies. GABRG2 is a molecule that has recently been characterized as the culprit for epileptic seizures onset. GABRG2 encodes GABA receptor that is fundamental inhibitory neurotransmitter in mammalian brain and is a ligand-gated chloride channels. This ligand-receptor coupling results in the inward shuttling of chloride ions through the channels and this hyperpolarizes the neurons, which induce the inhibitory effect of neurotransmitters. Direct sequencing of candidate gene "GABRG2" traced out a single polymorphic site in the exon 3 of the CAE as well as GTCS cases. However, this single nucleotide alteration is more commonly identified in childhood absence epilepsy patients as compared to the generalized cases. Silent mutation was identified at locus 27909 C>T of 46.66% of the total screened or analyzed cases. Availability: Items available for loan: UVAS Library [Call number: 1500,T] (1).

2. Differential Expression And Mutation Analysis Of Heat Shock Proteins (Hsps) And Tumor Suppressor Gene (P53) In Differemt Cancer Types of Pakistani Dogs and Cats

by Rashid Saif | Dr. Muhammad Wasim | Dr. Ali Raza Awan | Dr. Muhammad.

Material type: book Book; Format: print ; Literary form: not fiction Publisher: 2014Dissertation note: Abstract Availability: Items available for loan: UVAS Library [Call number: 2170,T] (1).

3. Mutational Screening Of The RB1 Gene In Pakistani Patients With Retinoblastoma

by Saeeda Kalsoom (2007-VA-555) | Dr. Muhammad Wasim) | Dr. Khushnooda Ramzan | Dr. Ali Raza Awan | Dr. Aftab Ahmad Anjum.

Material type: book Book; Literary form: not fiction Publisher: 2015Dissertation note: Retinoblastoma is a neonatal intraocular tumor caused by biallelic inactivation of RB1 gene. Rb patients and asymptomatic carriers undergo a series of clinical tests for diagnosis and tumor treatment. These clinical examinations prove to be expensive and time consuming. On the other hand if the proband’s RB1 gene mutation status is determined by genetic testing, it can prove as more significant and cost effective diagnostic methods. Secondly, only those asymptomatic or at risk carriers with the mutation, require clinical surveillance while those proven to be unaffected do not require additional clinical examinations. Furthermore early diagnosis of Rb by molecular testing can enable and enhance clinical management, earlier treatment, follow-up care, carrier screening, genetic counseling, prenatal diagnosis and reproductive planning in predisposed families. Irrespective of the importance of molecular testing of Rb patients, in Pakistan only a few clinical reports on Rb are available so, there was a dire need to find RB1 mutations in Pakistani Rb patients and to set a molecular based diagnosis for poor affected families. Keeping in view the importance of molecular diagnosis, in this study a reliable genetic test has been developed to detect the RB1 germline mutations in Pakistani Rb patients. During this study, 70 Rb patients including 38 unilateral and 32 bilateral cases were enrolled, from different regions of Pakistan. By using direct sequencing method, seven novel and twelve reported RBI mutations were found. The novel mutations included three frameshift mutations (c.1116_1119delCACT in exon 11, c.1436_1437delAC in exon 16 and c.2060_2061insTCATT in exon 20) and four substitutions (c.148G>T in exon 2, c.610G>T in exon 2, g.94G>C in exon 7, c.947A>T in exon 10 and g.1991G>C in promoter region) while twelve reported mutations in 146 22 patients included, 9 substitutions (c.160G>T in exon 2, c.289G>T in exon 3, c.751C>T in exon 8, c.920C>T in exon 9, c.967G>T in exon 10, c.1072C>T in exon 11, c.1654C>T in exon 17, c.2063T>C in exon 20 and c.2359C>T in exon 23), one frameshift mutation (c.772_776del in exon 8) and two splice site mutations (c.380+1G>T and c.1215+1G>A in intron 3 and 12 respectively). Mutation detection rate was found to be 77.8% in (7/9) bilateral familial, 50% in (2/4) unilateral familial, 56.5% in (13/23) bilateral sporadic and 14.7% in (5/34) unilateral sporadic patients while overall rate of mutations in bilateral and unilateral patients was detected as 62.5% (20/32) and 18.4% (7/38) respectively. Beside mutations one novel c.940-64C>T (intron 9) and nine reported intronic variants c.380+45 C>T (intron 3), c.501-77G>A (intron 4), c.1128-72T>G (intron 11), c.1695+99A>T (intron 17), c.1695-1696delAA (intron 17), c.1815- 104A>G (intron 18), c.1961-10T>C (intron 19), c.2663+33T>C (intron 25) and c.2664-10T>A (intron 25) were also found. Carrier screening facility was also provided to six asymptomatic siblings (as possible carriers) of familial proband but none of them was found to be diseased. Hopefully, in future the findings and developed protocol of this study will help to reveal the molecular basis of Rb in Pakistani Rb patients which additionally help to secure vision and life of Rb patients. Further, in Pakistan there is dire need to develop “National Rb Registry Centre”, to register all new Rb cases for finding incidence rate and prevalence of Rb in Pakistan. Beside this other related issues like financial constraints, health education, planning and awareness about Rb, occupational training for health providers, capacity building for neonatal ophthalmologic screening and cosmetic rehabilitation for surviving Rb patients are important and should consider. Availability: Items available for loan: UVAS Library [Call number: 2370-T] (1).

4. Genetic Identification And Characterization Of Pakistani Birds Of Perdicinae Subfamily (Partridge) Through Dna Barcoding Method

by Asim Iqbal Jutt (2013-VA-557) | Dr. Ali Raza Awan | Dr. Muhammad Wasim | Prof. Dr. Kamran Ashraf.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: Pakistani birds of Perdicinae sub family are cage and game birds. Birds includes Altectoris chukar, Ammoperdix heyi, Ammoperdix griseogularis, Francolinus francolinus and Francolins pondicerianus. Traditional methods of identification were based on the phenotypical characterization of birds, which may lead to incorrect identification, so there was need to explore their characters at DNA level for accurate identification and to establish a DNA reference. Birds of sub-family Perdicinae have not been genetically characterized in Pakistan. A new precise method “DNA barcoding” was applied using COI gene of mDNA for authentic identification and classification of these birds. Blood and tissue samples of five species (fifteen samples) were obtained. DNA of each sample was extracted by organic method. Amplification of CO1 gene was done by using a universal set of primers BIRDF1, BIRDR1. Sequence of 450bp were analyzed using bioinformatics softwares. Each sample was aligned with its reference sequence of COI gene available on NCBI. Every nucleotide position which did not align with the reference sequence was studied to identify SNPs. A common phylogenetic tree of all partridges showed that they have common ancestor about 0.7 million year ago, F.francolinus, F.pondicerianus and A.heyi shared a common clade whereas A.chukar made a separate clade from the ancestor. A.heyi and F.pondicerianus showed closed resemblance. It has been proved that DNA barcoding is an efficient and accurate molecular tool for species identification and phylogenetic implication. This study established a DNA Data Bank that helped scientists to investigate the biodiversity, taxonomic classification, species identification and also established foundations for molecular biologists to study taxonomic uncertainties at sub species level using SNP based identifying marker. Availability: Items available for loan: UVAS Library [Call number: 2714-T] (1).

5. Snp Genotyping Of Cacna1a Gene Implicated In Childhood Absence Epilepsy (Cae)

by Wajeeha Tariq (2010-VA-487) | Dr. Muhammad Wasim | Dr. Ali Raza Awan | Dr. Muhammad tayyab.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: Childhood absence epilepsy (CAE) is more pediatric epileptic syndrome. It is about 5 to 15% of all childhood epilepsies. CAE is polygenic and multifactorial syndrome. Many different genes other than CACNA1A gene are involved to cause the CAE collectively. Mutation in P/Q type alpha 1 A subunit channel (Cav2.1) gene CACNA1A, leading to the reduction of Cav2.1 activity in both neurons and in expression system. Reduction in Cav2.1 channel activity altered the neurotransmitter release at neocortical synapses. Molecular genetics techniques have identified various mutation in the genes of ion channels such (CACNA1A, CACNA1G, CACNA1H, CACNB4), sodium channel genes (SCN1A, SCN1B and SCN2A) and GABA receptor genes (GABRD and GABRG2). CACNA1A ion channels are the standard mediator of neurotransmission in Central nervous system (CNS) and mutations in this gene play significant role in the generation of absence seizures. Pore forming alpha 1 a (Cav2.1) channels encoded by CACNA1A gene and are usually located in presynaptic neuron. Present study was aimed to examine coding regions of CACNA1A gene for analyzing the mutations involve in epilepsy. Blood samples (n = 40) of true CAE representatives were collected from Children hospital Lahore. DNA was isolated from all blood samples through standard organic method. Amplification of CACNA1A gene exon 36 regions was done with specially designed primers. Later on, results were analyzed through sequencing of target region. Sequenced samples were analyzed through BioEdit software and alignment was done through Clustal Omega software. It has been identified that absence epileptic patients of Pakistan showed Mutation in exon 36 of CACNA1A gene at position 281258bp and 281285bp which alter the protein sequence. Due to frame shift mutation a stop codon was detected at position 1813 in protein sequence. So a truncated and loss of function Cav2.1 channel might be formed. In epileptic patients, mutation is responsible for the absence seizures. In the conclusion, we can say that additional study with large number sample is required to amend the effects of these mutations and their associated factors are precisely and perfectly identified. Further, there is need to investigate the other gene variation causing epilepsy in the local population of Punjab Pakistan. This study will ultimately help to develop genetic counseling strategies, gene therapies and parental diagnostic procedures for the Pakistani population. Availability: Items available for loan: UVAS Library [Call number: 2746-T] (1).

6. Mutational Analysis Of Cacna1ggene Implicated In Childhood Absence Epilepsy And Its Comparative Genomics In Mice

by Fiza Idrees (2015-VA-803) | Dr. Muhammad Wasim | Dr. Ali Raza Awan | Prof. Dr. Aftab Ahmed Anjum.

Material type: book Book; Literary form: not fiction Publisher: 2017Dissertation note: Childhood absence epilepsy (CAE) is the subtype of Idiopathic generalized epilepsy (IGE). It accounts for 2-8% of patients with epilepsy. The frequency of CAE is more in girls than boys. The percentage of CAE in youngsters is 10-12%. In addition to CACNA1G, many other genes can be the possible cause of CAE. The pattern of inheritance of CAE is polygenic and complex. SNP might be a gain of function mutation in T- channel genes that results in increase T-type calcium channel activity. Ion channel genes and genes for GABA receptors are affected in epilepsy. By using various techniques of molecular genetics mutations have detected in genes of calcium channels (CACNA1H,CACNA1I, CACNA1A, CACNA1G and CACNB4), in genes of sodium channels like (SCN1B, SCN2A, SCN1A ) and genes for GABA receptor (GABRG2 and GABRD ). Gain of function mutation in CACNA1G gene and increased activity of α1G channels are the possible reason for abnormal SWD in absence epilepsy. Aim of this study was to assess acknowledged and/or the novel mutations in CACNA1G gene obtained from local childhood epileptic patients. Blood samples (n=20) were obtained from CAE patients. These samples were collected from children hospital Lahore. Organic method was used to extract DNA from these collected samples. Specific primers were designed for exon 13 and 17 and these exonic regions were amplified using PCR. After PCR, sequencing of PCR products was performed and then sequencing results were analyzed using chromas lite software. It has been observed that CACNA1G gene has two mutations in exon 17. It was noticed that protein sequence was altered and the positions of mutations were 38594bp and at 38635bp 38594bp and at 38635 bp. So SNP was detected and there was a gain of function mutation α1G channel activity. In conclusion, these mutations are responsible for absence seizures in CAE patients. So, it can be concluded that to find out how individuals get affected by these mutations and what factors are involved in causing such mutation, a large scale study should be conducted.In addition, other genes involved in causing epilepsy should also be investigated in local Pakistani Punjab population. As a result of such studies, various diagnostic procedures, strategies for counseling and gene therapies can develop. Availability: Items available for loan: UVAS Library [Call number: 2925-T] (1).

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