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2009
한국인에 있어서 PEPT1 유전자(exon 5 및 16)의 단일염기변이 빈도 및 일배체형 분석
Haplotype Analysis and Single Nucleotide Polymorphism Frequency of PEPT1 Gene (Exon 5 and 16) in Korean
한국약제학회
논문정보
- Publisher
- 약제학회지
- Issue Date
- 2009-12-06
- Keywords
- -
- Citation
- -
- Source
- -
- Journal Title
- -
- Volume
- 39
- Number
- 6
- Start Page
- 411
- End Page
- 416
- DOI
- ISSN
- 02592347
Abstract
The aim of this study was to investigate the frequency of the SNPs on PEPT1 exon 5 and 16 and to analyze haplotype frequency on PEPT1 exon 5 and 16 in Korean population. A total of 519 healthy subjects was genotyped for
PEPT1, using pyrosequencing analysis and polymerase chain reaction-based diagnostic tests. Haplotype was statistically inferred using an algorithm based on the expectation-maximization (EM). PEPT1 exon 5 G381A genotyping revealed that the frequency for homozygous wild-type (G/G), heterozygous (G/A) and homozygous mutant-type (A/A) was 30.4, 53.4 and 16.2%, respectively. PEPT1 exon 16 G1287C genotyping revealed that the frequency for homozygous G/G, heterozygous G/C and homozygous C/C type was 88.8, 10.0 and 1.2%, respectively. Based on these genotype data, haplotype analysis between PEPT1 exon 5 G381A and exon 16 G1287C using HapAnalyzer and PL-EM has proceeded. The result has revealed that linkage disequilibrium between alleles is not obvious (|D''|=0.3667).
- 전남대학교
- KCI
- 약제학회지
저자 정보
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