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Association Of Genetic Polymarphism Of Cyp 2D6 Gene With Generalized Tonic Clonic Seizures In Pakistani Ptients

By: Rana Manzoor Ahmad | Dr. Ali Raza Awan.
Contributor(s): Prof. Dr.Masroor Elahi Babar.
Material type: materialTypeLabelBookPublisher: 2011Subject(s): Institute of Biochemistry & BiotechnologyDDC classification: 1390,T Dissertation note: Epilepsy is chronic neurological disorder in which hyperexcitibilty of neurons cause seizures. It is a serious disorder as there is an association between the increased mortality and epilepsy. The etiology of epilepsy can be genetic. There are two main types of epilepsy, partial and generalized. These two types are further categorized into different type of seizures. Its prevalence is more in developing countries like Pakistan. The generalized tonic clonic seizure (GTCS) is a type of epilepsy prevelant in Pakistan. Cytochrome P450 (CYP2D6) enzyme has been reported to be associated with GTCS. CYP2D6 is encoded by a 4.6 kb gene named as CYP2D6. This is a highly polymorphic gene having 09 exons. In this study CYP2D6 gene (exon 1-5) was characterized for polymorphism and the polymorphism was evaluated for asssociation with GTCS in Pakistani patients. Patient data and blood samples of different epilepsy patients were collected. DNA was isolated by inorganic method. PCR amplification was used for amplification of CYP2D6 (exon 1-5) and sequencing was performed on ABI 3130 XL Genetic analyzer. Two mutations, 214 G>C and 232 G>C in intron1 of CYP2D6 gene have been found. These mutations were only found in Pakistani patients suffering with GTCS. Absence of these mutations in 10 healthy individuals (control group) confirmed association of these mutations with GTCS. This outcome of study will help to add information in international gene data. The mutations found in this study will also lead to gene therapy of GTCS, genetic counseling and develop prenatal diagonastic tests.
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Epilepsy is chronic neurological disorder in which hyperexcitibilty of neurons cause seizures. It is a serious disorder as there is an association between the increased mortality and epilepsy. The etiology of epilepsy can be genetic. There are two main types of epilepsy, partial and generalized. These two types are further categorized into different type of seizures. Its prevalence is more in developing countries like Pakistan. The generalized tonic clonic seizure (GTCS) is a type of epilepsy prevelant in Pakistan. Cytochrome P450 (CYP2D6) enzyme has been reported to be associated with GTCS. CYP2D6 is encoded by a 4.6 kb gene named as CYP2D6. This is a highly polymorphic gene having 09 exons.
In this study CYP2D6 gene (exon 1-5) was characterized for polymorphism and the polymorphism was evaluated for asssociation with GTCS in Pakistani patients. Patient data and blood samples of different epilepsy patients were collected. DNA was isolated by inorganic method. PCR amplification was used for amplification of CYP2D6 (exon 1-5) and sequencing was performed on ABI 3130 XL Genetic analyzer. Two mutations, 214 G>C and 232 G>C in intron1 of CYP2D6 gene have been found. These mutations were only found in Pakistani patients suffering with GTCS. Absence of these mutations in 10 healthy individuals (control group) confirmed association of these mutations with GTCS. This outcome of study will help to add information in international gene data. The mutations found in this study will also lead to gene therapy of GTCS, genetic counseling and develop prenatal diagonastic tests.

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