Single nucleotide polymorphisms and the linkage disequilibrium at the LDL receptor gene in Koreans.
Yi, CH; Lee, SK; Cheong, JY; Cho, SW; Kwack, K
Genes & genomics, 32(1):23-28, 2010
Genes & genomics
The low-density lipoprotein (LDL) receptor gene is one of the important genes in cardiovascular biology, but gives difficulty in single nucleotide polymorphism (SNP) marker choice. Twelve SNPs at the LDL receptor locus were genotyped in 117 Korean individuals. Six SNPs (rs8111982, rs12983082, rs1003723, rs5925, rs6413504, and rs2738464) were polymorphic in the Korean sample. And 8 SNPs (rs5931, rs811 1982, rs12983082, rs11669576, rs1003723, rs5925, rs641 3504, and rs2738464) were polymorphic in at least one population among the five ethnic groups (European: CEU; Chinese: CHB; Japanese: JPT; African:YRI; and Korean: KOR). Phylogenetic trees constructed based on the twelve SNPs showed a pattern clustering KOR with CHB and JPT as more closely related than either YRI or CEU. The plot of the pairwise linkage disequilibrium (LD) values for the exon 13 SNP (rs5925) against the physical distances between pairs of SNPs showed a tendency of LD decrease in the upstream of rs5925, while the low r(2) values are present in the downstream of rs5925 (a parts per thousand yen0.20). The three SNPs (rs12983082, rs1003723, and rs5925) which are ethnically polymorphic are likely to be useful SNP markers for the LDL receptor locus. The interblock region between exon 13 and exon 18 delimited by the less stringent block definition (four gamete rule) contains a feasible recombination hotspot in the LDL receptor gene in Koreans.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.
Total Visit :2,421,287
Total Download :1,022,084
Today View :879
Ajou University Medical Information & Media Center 164 Worldcup-ro Yeongtong-gu Suwon 16499 Korea / TEL : 031-219-5312 / FAX : 031-219-5314 Copyright (c) Ajou University Medical Information & Media Center All Rights Reserved. AJOU Open Repository는 국립중앙도서관 OAK 보급사업으로 구축되었습니다.