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KMID : 0359720100280020085
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Journal of the Korean Neurological Association
2010 Volume.28 No. 2 p.85 ~ p.90
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Publicly Available Single Nucleotide Polymorphisms in Genes Possibly Susceptible to Antiepileptic Drug Resistance in Healthy Koreans
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Kim Myeong-Kyu
Cho Ki-Hyun
Kim Byeong-Chae
Choi Kang-Ho
Kim Joon-Tae
Nam Tai-Seung
Choi Seong-Min
Park Man-Seok
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Abstract
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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.
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KEYWORD
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Single-nucleotide polymorphism, Antiepileptic drug
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