Association Of Genetic Polymarphism Of Cyp 2D6 Gene With Generalized Tonic Clonic Seizures In Pakistani Ptients (Record no. 3099)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02150nam a2200181Ia 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20151005152137.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 150525s2011 xx 000 0 und d |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | eng |
| 082 ## - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 1390,T |
| 100 ## - MAIN ENTRY--AUTHOR NAME | |
| Personal name | Rana Manzoor Ahmad |
| 110 ## - MAIN ENTRY--CORPORATE NAME | |
| Location of meeting | Dr. Ali Raza Awan |
| 245 ## - TITLE STATEMENT | |
| Title | Association Of Genetic Polymarphism Of Cyp 2D6 Gene With Generalized Tonic Clonic Seizures In Pakistani Ptients |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) | |
| Year of publication | 2011 |
| 502 ## - DISSERTATION NOTE | |
| 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. |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical Term | Institute of Biochemistry & Biotechnology |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prof. Dr.Masroor Elahi Babar |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Koha item type | Thesis |
| Damaged status | Collection code | Permanent Location | Current Location | Shelving location | Date acquired | Full call number | Accession Number | Koha item type |
|---|---|---|---|---|---|---|---|---|
| Veterinary Science | UVAS Library | UVAS Library | Thesis Section | 2015-05-29 | 1390,T | 1390,T | Thesis |