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Identification Of Polymorphism Of Cyp2D6 Gene In Pakistani Patients Of Epilepsy

By: Sana Kulsoom | Prof. Dr. Masroor Ellahi Babar.
Contributor(s): Dr. Ali Raza Awan | Mr. Zahid.
Material type: materialTypeLabelBookPublisher: 2011Subject(s): Institute of Biochemistry & BiotechnologyDDC classification: 1519,T Dissertation note: Epilepsy is a neurological disorder which causes seizures by sudden burst of hyperactivity in the brain. It is a global health problem and 50 million people have epilepsy all over the world. The majority of epilepsy patients can pass a good life if they receive proper treatment. Various types of epilepsy are present in Pakistan but Generalized tonic-clonic seizure (GTCS) is the most frequent type of epilepsy present in Pakistani patients. GTCS is a type of seizers involving the entire brain. It is also called a grand mal seizure. CYP2D6 is a gene associated with GTCS. CYP2D6 is a 4.6 kb gene which encodes the protein cytochrome P450, a metabolizing enzyme. CYP2D6 is a highly polymorphic gene with 09 exons. Patient data and blood samples of different epilepsy patient were collected. DNA was isolated by Organic method. PCR amplification was performed for CYP2D6 gene (exon 6-9) and sequencing was performed on ABI 3130 XL Genetic analyzer and the results were analyzed. In this way the mutations, 2850 C>T in exon 6 of CYP2D6 gene have been caricaturized in Pakistani patients of GTCS encoding Cyctine in place of Argine at 296 in CYP2D6 enzyme. This change may be associated with GTCS in Pakistani Patients. Above study will help medical scientists in Molecular diagnosis, Genetic counseling and Gene therapy.
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Veterinary Science 1519,T (Browse shelf) Available 1519,T
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Epilepsy is a neurological disorder which causes seizures by sudden burst of hyperactivity in the brain. It is a global health problem and 50 million people have epilepsy all over the world. The majority of epilepsy patients can pass a good life if they receive proper treatment. Various types of epilepsy are present in Pakistan but Generalized tonic-clonic seizure (GTCS) is the most frequent type of epilepsy present in Pakistani patients. GTCS is a type of seizers involving the entire brain. It is also called a grand mal seizure. CYP2D6 is a gene associated with GTCS.
CYP2D6 is a 4.6 kb gene which encodes the protein cytochrome P450, a metabolizing enzyme. CYP2D6 is a highly polymorphic gene with 09 exons. Patient data and blood samples of different epilepsy patient were collected. DNA was isolated by Organic method. PCR amplification was performed for CYP2D6 gene (exon 6-9) and sequencing was performed on ABI 3130 XL Genetic analyzer and the results were analyzed. In this way the mutations, 2850 C>T in exon 6 of CYP2D6 gene have been caricaturized in Pakistani patients of GTCS encoding Cyctine in place of Argine at 296 in CYP2D6 enzyme. This change may be associated with GTCS in Pakistani Patients. Above study will help medical scientists in Molecular diagnosis, Genetic counseling and Gene therapy.

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