中国撒拉族线粒体DNA序列遗传多态性研究

目的　以无关个体为对象 ,研究撒拉族人群线粒体DNA(mtDNA)序列遗传多态性。方法　应用PCR扩增产物直接测序法 ,对 10 0名撒拉族无关个体线粒体DNAD 环区高变区Ⅰ (HVSⅠ )进行测序分析。结果　在mtDNAHVSⅠ 16 0 91～ 16 4 18之间与Anderson相应序列比较共发现有 83处突变 ,构成 75种单倍型。点突变的主要形式为碱基替代 ,其中转换 83.5 4 % ,颠换 12 .6 6 % ,碱基插入 1.9% ,缺失 1.7%。撒拉族线粒体DNAHVSⅠ基因差异度为 0 .9912 ,偶合概率为 0 .0 189。结论　撒拉族与其他群体比较有其独特的线粒体DNA序列遗传特点 ,与亚洲其他人种及高加索人有明显差异。线粒体DNA序列多态性在群体遗传学调查及法医学个体识别方面有广泛的应用前景。

Study on polymorphisms of mitochondrial DNA D-loop region in the Sala population in China

Objective To investigate the mitochondrial DNA sequence polymorphisms in the Sala population from northwest China and to provide basic data for forensic purpose. Methods Genomic DNA was extracted from the whole blood of 100 unrelated individuals of the Sala population. The sequence polymorphic locus was determined by direct sequencing. Results 83 loci were observed in mtDNA np16 091-16 418 region, and 75 haplotypes were confirmed. The genetic diversity was estimated to be 0.991 2, and the random match probability was calculated to be 0.018 9. Conclusion There are some particular polymorphic loci in the Sala population. The results suggest that there are different genetic structures between Chinese and other Asian population in mitochondrial DNA D-loop region; mitochondrial DNA sequence polymorphism np16 091-16 418 can be used as a genetic marker for forensic individual identification.