Mutation Anlysis Of DTNBP1 Gene In Pakistani Patients With Schizophrenia Disorder
By: Hafiza Sidrah Yasin (2013-VA-11)
| Dr. Asif Nadeem.
Contributor(s): Dr. Maryam Javed | Dr. Abu Saeed Hashmi.
Material type: 
BookPublisher: 2015Description: 51p.Subject(s): Department of Molecular Biology and BiotechnologyDDC classification: 2382-T Dissertation 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.
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Thesis
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UVAS Library Thesis Section | Veterinary Science | 2382-T (Browse shelf) | Available | 2382-T |
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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.
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