在位于6号染色体6p21带的包含心肌梗死易感基因的130 kb区域中鉴定出46个新的单核苷酸多态性（SNP）。
Identification of 46 novel SNPs in the 130-kb region containing a myocardial infarction susceptibility gene on chromosomal band 6p21.
作者信息
Iida Aritoshi, Ozaki Kouichi, Ohnishi Yozo, Tanaka Toshihiro, Nakamura Yusuke
机构信息
Laboratory for Genotyping, RIKEN SNP Research Center, Kanagawa, Japan.
Laboratory for Cardiovascular Diseases, RIKEN SNP Research Center, Tokyo, Japan.
出版信息
J Hum Genet. 2003;48(9):476-479. doi: 10.1007/s10038-003-0054-y. Epub 2003 Aug 13.
We identified a total of 187 single-nucleotide polymorphisms (SNPs) at 11 gene loci in the 130-kb region on chromosome 6p21 containing a gene strongly associated with myocardial infarction (MI). By comparing our data with SNPs deposited in the dbSNP database at the National Center for Biotechnology Information, 46 of these SNPs (24.6%) were considered to be novel: four were identified in the P5-1 locus, 14 in the MICB locus, nine in the BAT1 locus, one in the ATP6V1G2 locus, six in the NFKBIL1 locus, one in the LTA locus, one in the TNF locus, five in the LST1 locus, four in the LY117a locus, and one in the AIF-1 locus. The SNP map presented here should provide as useful resource not only for examining the relationships between genotypes and susceptibility to the MI phenotype, but also for scanning of complex diseases mapped to this local segment on chromosome 6.
我们在6号染色体p21区域130 kb范围内的11个基因位点共鉴定出187个单核苷酸多态性（SNP），该区域包含一个与心肌梗死（MI）密切相关的基因。通过将我们的数据与美国国立生物技术信息中心dbSNP数据库中存储的SNP进行比较，这些SNP中有46个（24.6%）被认为是新发现的：在P5-1位点鉴定出4个，在MICB位点鉴定出14个，在BAT1位点鉴定出9个，在ATP6V1G2位点鉴定出1个，在NFKBIL1位点鉴定出6个，在LTA位点鉴定出1个，在TNF位点鉴定出1个，在LST1位点鉴定出5个，在LY117a位点鉴定出4个，在AIF-1位点鉴定出1个。本文呈现的SNP图谱不仅应为研究基因型与MI表型易感性之间的关系提供有用资源，还应为扫描定位到6号染色体这一局部片段上的复杂疾病提供帮助。
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