000			02150nam a2200181Ia 4500
005			20151005152137.0
008			150525s2011 xx 000 0 und d
041			_aeng
082			_a1390,T
100			_aRana Manzoor Ahmad _97951
110			_cDr. Ali Raza Awan _97905
245			_aAssociation Of Genetic Polymarphism Of Cyp 2D6 Gene With Generalized Tonic Clonic Seizures In Pakistani Ptients
260			_c2011
502			_aEpilepsy 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.
650			_aInstitute of Biochemistry & Biotechnology _95022
700			_aProf. Dr.Masroor Elahi Babar _96616
942			_cTH
999			_c3099 _d3099