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1. Molecular Exploration Of Zinc Finger Bed-Type Containing 6 Gene For Growth Trait In Beetal Goat

by Kanwal Rashid (2014-VA-496) | Dr. Maryam Javed | Dr. Asif Nadeem | Dr. Abu Saeed Hashmi.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: Zinc finger, BED-type containing 6 (ZBED6), is a novel transcription factor.It acts as a repressor of IGF2 transcription in skeletal muscle myogenesis and development. it is mainly involved in organism development, signaling, cell to cell interaction, hepatic fibrosis, clathrin mediated endocytosis and tight junction signaling cascades. Chromatin immunoprecipitation (ChIP) sequencing using C2C12 cells identified about 2,500 ZBED6 binding sites in the genome, and the deduced consensus motif gave a perfect match with the established binding site in Igf2. Silencing of Zbed6 in myoblast cells affect Igf2 expression, cell proliferation, wound healing, and myotube formation. Genes associated with ZBED6 binding sites showed a highly significant enrichment for certain Gene Ontology classifications, including development and transcriptional regulation.Functional and signaling assays of BED6 gene indicate its probable role in controlling growth traits in Goat. Blood samples (n = 40) were collected. Inorganic method of DNA extraction used. Primers for PCR amplification will be designed using Primer3 software. PCR products will be sequenced bi-directionally on ABI 3130XL Genetic analyzer. The results of sequencing were analyzed using CHROMAS software. Sequence alignment tools (blast 2)were used for SNPs identification. Difference between allele and genotype frequency of studied gene evaluated by chi square test, likelihood test and analysis was done by POPGENE and one way ANOVA.Novel Variations identified which have probable implementation in selection of superior goats with higher tendencies towards weight gain. Availability: Items available for loan: UVAS Library [Call number: 2554-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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