安徽汉族群体mtDNA高变区I序列多态性分析

Sequence polymorphisms of the mitochondrial DNA control region in Anhui Han ethnic group in China

以Anderson标准序列作为对照,用GeneDOC软件确定42个安徽汉族无关个体的m tDNA高变区I序列在线粒体基因组中的位置,通过序列比对软件c lustalX分析安徽汉族群体m t DNA高变区I序列多态性,共检测到38种单倍型和57个变异位点。在m tDNA高变区I序列中14个bp的高变结构域中,安徽汉人16183位点变异率高达38%,在16187位点的变异率为4.8%。同时发现,安徽汉人与成都汉人在m tDNA高变区I 16183和16189位点的变异率接近,明显高于广东汉人。

In order to demonstrate the polymorphisms of the mitochondrial DNA(mtDNA) hypervariable segment 1 region(HVS-I) in Anhui Han population,the HVS-I sequences of 42 unrelated individuals of Anhui province from the Gene Bank of NCB1 was downloaded.Compared with Anderson standard sequence,the site of these sequences in the mitochondrial genome by the software GeneDOC were found out.By means of sequences alignment software clustalX,57 loci were observed in these HVS-I sequences,and 38 haplotypes were confirmed.The 14bp hypervariable region in mtDNA HVS-1 was also analyzed,with variation ratio of Anhui Han population was 38% in 16183 site and 4.8% in 16187 site.The variation and comunication of mtDNA HVS-I between different Han population in China were discussed.