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2010
정상 한국인의 항간질약 내성기전에 관여할 것으로 추정되는 유전자변이 정보
Publicly Available Single Nucleotide Polymorphisms in Genes Possibly Susceptible to Antiepileptic Drug Resistance in Healthy Koreans
대한신경과학회
김병채, 남태승 외 6명
논문정보
- Publisher
- 대한신경과학회지
- Issue Date
- 2010-03-01
- Keywords
- -
- Citation
- -
- Source
- -
- Journal Title
- -
- Volume
- 28
- Number
- 2
- Start Page
- 85
- End Page
- 90
- DOI
- ISSN
- 12257044
Abstract
Background: The completion of the human genome project means that a high-quality reference sequence of the gene-rich
portion of the human genome is now available. However, the strong influence of ethnic, geographical, and other
characteristics of study populations on the frequencies of different single-nucleotide polymorphisms (SNPs) makes it
questionable whether foreign SNP data should be used in domestic studies.
Methods: Twenty-seven possible candidate genes of antiepileptic drug (AED) resistance were resequenced in a DNA
pool from 200 healthy Koreans to identify SNPs and calculate their minor allele frequencies (MAFs).
Results: A total of 98 SNPs were present in 22 of the 27 genes: 28 were in the coding regions, 34 were in introns, 23 were
in 5’ near genes, 10 were in 5’ untranslated regions, and 3 were in 3’ near genes.
Conclusions: The comparative analysis using the pooled DNA adopted in the present study was highly reliable in
estimating MAFs and was compatible with the common disease/common variant hypothesis. The reported data on 98
publicly available SNPs of genes possibly associated with AED resistance that be useful to researchers with limited
availability of domestic SNP data.
- 전남대학교
- KCI
- 대한신경과학회지
저자 정보
| 이름 | 소속 |
|---|---|
| 김병채 | 의학과 |
| 남태승 | 의학과 |