Journal of Pharmaceutical Investigation

The Korean Society of Pharmaceutical Sciences and Technology (한국약제학회)
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Haplotype Analysis and Single Nucleotide Polymorphism Frequency of PEPT1 Gene (Exon 5 and 16) in Korean

한국인에 있어서 PEPT1 유전자(exon 5 및 16)의 단일염기변이 빈도 및 일배체형 분석

  • Kim, Se-Mi (College of Pharmacy, Institute of Bioequivalence and Bridging Study, Chonnam National University) ;
  • Lee, Sang-No (College of Pharmacy, Institute of Bioequivalence and Bridging Study, Chonnam National University) ;
  • Kang, Hyun-Ah (Pharmaceutical Research Institute, CJ Cheiljedang Corp) ;
  • Cho, Hea-Young (Clinical Trials Management Division, KFDA) ;
  • Lee, Il-Kwon (Genome Research Center for Hematopoietic Diseases (GRCHD), Chonnam National University) ;
  • Lee, Yong-Bok (College of Pharmacy, Institute of Bioequivalence and Bridging Study, Chonnam National University)
  • 김세미 (전남대학교 약학대학 부속 생물학적동등성 및 가교시험연구소) ;
  • 이상노 (전남대학교 약학대학 부속 생물학적동등성 및 가교시험연구소) ;
  • 강현아 (CJ제일제당주식회사 제약연구소) ;
  • 조혜영 (임상제도과, 식품의약품안전청) ;
  • 이일권 (조혈계질환유전체연구센터, 전남대학교병원) ;
  • 이용복 (전남대학교 약학대학 부속 생물학적동등성 및 가교시험연구소)
  • Published : 2009.12.20
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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).

Keywords

References

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