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Genetic Study Of Myp6, Mpy7, And Myp8, Loci Of Myopia In Punjabi Families

by Maria Arshad | Prof.Dr.Masroor Elahi Babar | Dr. Abu Saeed | Dr. Ali Raza Awan.

Material type: book Book; Format: print Publisher: 2010Dissertation note: Myopia is a refractive abnormality of the eye in which the parallel light rays from an object at optical infinity are focused by the eye in front of the retina rather than on it. It may be syndromic or non-syndromic. An extreme genetic heterogeneity is associated with this disorder. This is the first experimental study on Myopia in Pakistan. So, investigating the loci of myopia here is very important because this disease is spreading day by day with prevalence rate of 36.5%. Microsatellite markers have been proved as an efficient and powerful tool for discovering any diseased locus. So a panel of these markers was used in this study. Blood samples of various myopic families were collected from various areas of Punjab and their DNA was extracted with the standard protocol. The amplification of DNA was done with primers of microsatellite markers belonging to the loci MYP6, MYP7 and MYP8. Genotyping was done for linkage analysis through PAGE. Haplotypes were made manually by observing the alleles of all the individuals on the gel. The results showed potential linkage against MYP7 locus for the family Myo-3 with autosomal dominant mode of inheritance. This family belongs to the caste "Khawaja" and was enrolled from PCSIR Phase II, Lahore, Punjab. All the affected individuals carried the same allele that was not present in the normal subject. Later the LOD Score for this family was calculated and maximum LOD score came out to be 0.0803 at the marker D11S904 that showed very low percentage of linkage. This can be confirmed by extending the family by further sampling. Availability: Items available for loan: UVAS Library [Call number: 1157,T] (1).

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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).

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