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KMID : 0369820090390060411
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Jorunal of Korean Pharmaceutical Sciences
2009 Volume.39 No. 6 p.411 ~ p.416
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Haplotype Analysis and Single Nucleotide Polymorphism Frequency of PEPT1 Gene (Exon 5 and 16) in Korean
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Kim Se-Mi
Lee Yong-Bok
Lee Il-Kwon
Cho Hea-Young
Kang Hyun-Ah
Lee Sang-No
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Abstract
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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).
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KEYWORD
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PEPT1 Exon 5 and 16, Genetic polymorphisms, Haplotype, Korean
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