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1. Mutation Anlysis Of DTNBP1 Gene In Pakistani Patients With Schizophrenia Disorder

by Hafiza Sidrah Yasin (2013-VA-11) | Dr. Asif Nadeem | Dr. Maryam Javed | Dr. Abu Saeed Hashmi.

Material type: book Book; Literary form: not fiction Publisher: 2015Dissertation note: Schizophrenia (SCZ) disorder is a mental complex, heterogeneous and chronic neurodegenerative disorder with a cumulative prevalence of 1%. SCZ is an idiopathic disorder of the cortex and hippocampus. Environmental as well as genetic factors contribute to its complex pathogenesis. A functional repeat polymorphism in the Dystrobrevin Binding Protein 1 (DTNBP1) gene promoter conveys susceptibility for SCZ disorder. The DTNBP1 has been implicated in rare autosomal dominant forms of SCZ disorder because of mutations associated with severe disease progression and a typical physical signs and symptoms, indicative of neurodegeneration. Mutation in DTNBP1 gene has association with change in dysbindin protein which leads to change in abnormal neurotransmitter trafficking which leads to decrease in neuronal size, brain atrophy and reduced glutamate release in schizophrenia disorder. A systematic approach was applied to proceed the present study in order to identify the single nucleotides polymorphisms in schizophrenic patients. Blood samples (n=40) were collected from schizophrenia disorder patients. DNA was extracted by organic method. Primers were designed using Primer3 software. The 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 was done by CHROMAS software. Sequence was aligned by Blast tool of NCBI. Difference between allele and genotype frequency of studied gene was evaluated and analyzed by using “SNPator”. The present study provides information about the susceptibility and genetic basis of the individual towards this disease and identified polymorphisms provides the opportunity to diagnose the disease earlier on the basis of particular SNPs in Pakistani patients. Availability: Items available for loan: UVAS Library [Call number: 2382-T] (1).

2. Nucleotide Sequence Variation In Heat Shock Protein 70-1 Gene Of Capra Aegagrus Blythi

by Fehmeeda Fatima (2014-VA-775) | Dr. Asif Nadeem | Dr. Maryam Javed | Dr. Abu Saeed Hashmi.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: Heat shock protein 70 (HSP 70) plays a vital role in survival of an organism by providing cytoprotection against various kinds of stresses. Among all the HSPs present in the cell, the ubiquitous HSP 70 proteins are the most abundant and temperature sensitive. Considering the importance of HSP70-1 gene in conferring thermotolerance, present study has been designed to characterize this gene in Sindh ibex which is a wild goat species of Pakistan. The characterization of HSP70 gene might be helpful for deriving phylogenetic relationship among different species and identifying new functions among the related species. Blood/meat samples (n=25) were collected from Kirthar national park, Sindh. Standard DNA extraction method was used for DNA extraction. PCR primers were designed by Primer3 software and amplification of gene was done by Polymerase Chain Reaction. PCR product was sequenced bi-directionally by Big DyeTM Terminator on ABI 3130XL Genetic Analyzer. Multiple sequence alignment was performed for polymorphism identification. Genetic diversity was calculated by using DnaSP v.5.0. Phylogenetic analysis using the MEGA v.6.0 software package was performed and neighbor joining and UPGM trees were constructed. The results indicated that Sindh ibex HSP70.1 gene was highly similar to of domestic goat, sheep, cattle, buffalo, camel and horse which indicates their origin from a common ancestor. The results of this data might be helpful in designing effective conservation strategies for Sindh ibex. Availability: Items available for loan: UVAS Library [Call number: 2524-T] (1).

3. 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).

4. Sequence Analysis Of Mitochondrial Atpase 8/6 Gene Variants In Sindh Ibex (Capra Aegagrus Blythi)

by Javeria Zafar (2014-VA-222) | Dr. Asif Nadeem | Dr. Maryam Javed | Prof. Dr. Abu Saeed Hashmi.

Material type: book Book; Literary form: not fiction Publisher: 2016Dissertation note: ATPase 8/6 gene plays a vital role in survival of an organism by generating energy in the form of ATP synthase. Considering the importance of ATPase8/6 gene in energy generating, present study has been designed to characterize this gene in Sindh ibex. The characterization of ATPase8/6 gene might be helpful for deriving phylogenetic relationship among different species and identifying new functions among the related species. Tissue/blood samples (n=15) were collected from Kirthar National Park, Sindh. Standard DNA extraction method was used for DNA extraction. PCR primers were designed by Primer3 software and amplification of gene was done by Polymerase Chain Reaction. PCR product was sequenced bi-directionally by Big Dye TM Terminator on ABI 3130XL Genetic Analyzer. Multiple sequence alignment was performed for polymorphism identification. Genetic diversity was calculated by using DNAsp. Phylogenetic analysis using the MEGA6 software package and an equally weighted maximum parsimony analysis was performed using the close-neighbor-interchange algorithm. The results indicated that Sindh ibex ATPase8/6 gene was highly similar to Capra caucasica. The results of this data might be helpful in designing effective conservation strategies of different species of wild animal. Availability: Items available for loan: UVAS Library [Call number: 2587-T] (1).



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