中国北方汉族人群中载脂蛋白M基因多态性分布特征及连锁不平衡分析

目的研究中国北方汉族人群中载脂蛋白M基因（apolipoprotein M,APOM）多态性分布特征及其连锁不平衡关系。方法采用PCR扩增基因组DNA直接测序法结合PCR-限制性片段长度多态方法对330名中国北方汉族健康人群的APOM基因单核苷酸多态性（single nucleotide polymorphism,SNP）进行分析。结果中国北方汉族人APOM基因存在1号内含子rs805264位点、5号内含子rs707922位点及rs707921位点3个多态位点,不同种族及地区APOM基因SNP差异有统计学意义。APOM基因rs805264位点、rs707922位点及rs707921位点SNP在中国北方汉族人群中呈现明显的连锁不平衡,主要有G-G-C、A-T-A两种单体型。结论APOM基因SNP在中国北方汉族人群中存在显著连锁不平衡。

Distribution characters and linkage disequilibrium analysis of APOM gene polymorphisms in Han population of North China

Objective To investigate the distribution characters and linkage disequilibrium of apolipoprotein M gene (APOM) polymorphisms in Han population of North China. Methods The single nucleotide polymorphisms (SNPs) in six exons and five introns of APOM gene of 330 normal subjects in Han population of North China were detected by PCR-restriction fragment length polymorphism and DNA sequencing analysis. Results Three SNPs in Han Chinese were found, including rs805264 of intron 1, rs707922 and rs707921 of intron 5 of APOM gene. The frequency distribution of these SNPs was different among different races and territory. In addition, linkage disequilibrium among the SNPs of rs805264, rs707922 and rs707921 of APOM gene was found and A-T-A and G-G-C were predominant haplotypes. Conclusion There is apparent linkage disequilibrium among SNPs of APOM gene in Han population of North China.[