中国西藏拉萨藏族群体mtDNA环区HVR-Ⅰ序列多态性研究

Sequence polymorphisms of mitochondrial DNA D-loop region HVⅠ in Tibetan population in China

目的以无关个体为研究对象,研究中国藏族人群线粒体DNA D环区序列遗传多态性。方法应用PCR扩增产物直接测序法,对30名藏族无关个体线粒体DNA D-环区高变区Ⅰ(hypervariable regionⅠ,HVR-Ⅰ)进行测序分析。结果HVR-Ⅰ中404个核苷酸序列与Anderson相应序列比较共发现有51处突变,构成28种单倍型。藏族线粒体DNA HVR-Ⅰ基因差异度为0.9862,偶合概率为0.0466。结论线粒体DNA D环区序列多态性在法医学领域具有较高的应用价值。

Objective To study the genetic polymorphisms of the mitnchondrial DNA（mtDNA） D - loop region in Lhasa Tibetan population in China. Methods Sequence polymorphisms of 30 unrelated Tibetan mtDNA D - loop hypervariable regions Ⅰ were determined by PCR and direct sequencing, Results Fifty - one polymorphic sites and 28 haplotypes were identified in the sequences of 404 nucleotides for HV -Ⅰ, compared with the reference sequence. The genetic diversity was calculated to be 0.9862, and the genetic identity was 0.0466. Sequence polymorphism of mtDNA D- loop region is very useful in forensic practice as a marker for individual identification.