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1. Mutation Analysis Of Alpha-Synuclein Gene In Patients With Parkinson Disease

by Iffat Aleem (2009-VA-566) | Dr. Asif Nadeem | Prof. Dr. Tahir Yaqub | Ms. Huma Mujahid.

Material type: book Book; Literary form: not fiction Publisher: 2015Dissertation note: Parkinson disease is a complex, heterogeneous and chronic neurodegenerative disorder with a cumulative prevalence of greater than one per thousand, caused by neuronal loss, mainly affecting dopaminergic neurons of the substantia nigra. Parkinson disease is an idiopathic disorder of the extra pyramidal system characterized by tremors. Genetic factors contribute to its complex pathogenesis. A functional repeat polymorphism in the α-synuclein (SNCA) gene promoter conveys susceptibility for Parkinson disease. The α-synuclein (SNCA) has been implicated in rare autosomal dominant forms of Parkinson disease. The mutations in α-synuclein were associated with severe disease progression and a typical physical signs, indicative of neuro degeneration extending beyond the substantia nigra. Mutation in α-synuclein gene may have association with dopaminergic neuronal loss in Parkinson disease. Blood samples were collected from Parkinson disease patients. DNA was extracted by organic method. Primers were designed using Primer3 software. Amplification of gene was done by Polymerase Chain Reaction. PCR products were sequenced bi-directionally on ABI 3130XL Genetic analyzer. Sequence alignment was performed for polymorphism identification. The analysis of identified polymorphism has been done by CHROMAS software. Sequences were aligned by BLAST tool of NCBI. The results of analysis showed that no mutation found in exonic region of α-synuclein (SNCA) gene in Pakistani individuals selected for this study. Any change in exonic region of α-synuclein (SNCA) gene is a rare cause of sporadic and familial Parkinson disease in different populations. Availability: Items available for loan: UVAS Library [Call number: 2325-T] (1).

2. Molecular Investigation Of Low Density Lipoprotein Receptor Gene Causing Familial Hypercholesterolemia And Its Evolutionary Relationship With Pan Troglodytes

by Rida Zainab (2014-VA-808) | Dr. Maryam Javed | Dr. Asif Nadeem | Prof. Dr. Tahir Yaqub.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: Familial Hypercholesterolemia (FH) phenotype is related to improper metabolism of low density lipoproteins due to mutations in Low-density lipoprotein receptor (LDLR) gene with increased risk of ischemic heart disease. Genetic variants in LDLR gene are associated with defective catabolism of cholesterol effecting lipid metabolism which results in familial hypercholesterolemia. It occurs in both forms: Homozygous Familial Hypercholesterolemia and Heterozygous Familial Hypercholesterolemia. Patients having high cholesterol were identified by observing the values of their serum lipid profile test reports. Their detailed history was taken and blood samples from the identified patients of familial hypercholesterolemia were collected. DNA extraction was done by Organic method. Primers were synthesized and PCR was conducted using optimized recipe and conditions. PCR products were sequenced. Sequenced data was analyzed using Chromas or BioEdit software. BLAST was performed and sequences were aligned individually by comparing it to the reference sequence. This showed difference in any specific position of a mutated sequence against the reference sequence. CLUSTALW aligned all the sequences together in one time. Sequences were compared with reference sequence to detect the presence of any mutation or SNPs. SNPs were identified manually and the peaks were observed in order to determine if the genotype is heterozygous or homozygous. Statistical Analysis was done and any amino acid change due to the observed SNPs was determined by using Expasy Translate Tool. It was found that both the SNPs showed amino acid changes. In the end, homology analysis was done which showed that Homo sapiens had their LDLR gene closest to that of Gorilla gorilla gorilla. Availability: Items available for loan: UVAS Library [Call number: 2551-T] (1).



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