线粒体高变区多聚C-stretch序列长度多态性

目的研究线粒体高变区多聚C-stretch序列长度多态性,并探讨其在法医学个体识别中的价值。方法针对线粒体高变区nt16180及nt310两个位点采用文献报道引物,应用直接测序技术研究其等位基因分布及频率。结果两对引物扩增长度分别为807bp和962bp,nt16180位点检测到7种基因型,其中AAAACCCCCTCCCC基因型占87.72%,AAAACCCCCCCCCCCCC基因型在汉族人群中首次报道;nt310检测到7种基因型,其中CCCCCCCCTCCCCCC基因型占60.53%;联合两个位点共检测出15种单倍型,GD值为0.6309,其中AAAACCCCCTCCCC-CCCCCCCCTCCCCCC检测出66条,达到57.89%。结论为线粒体控制区DNA在法医学领域中的应用提供基础数据,证实了线粒体nt16180位点和nt310位点单倍型在线粒体DNA鉴定中有较好的应用价值。

Sequence-length polymorphism research of C-stretch in mitochondrial DNA hyper-variant region

Objective To investigate the polymorphism of C-stretch in mitochondrial DNA hyper-variant region and the values in forensic science.Methods The gene frequency were detected in such two loci of nt16180 and nt310 by using PCR-sequencing technique with two pair of primers according to the reference.Results The length of PCR products were 807 bp and 962 bp respectively.Seven genotypes in each locus were detected.AAAACCCCCTCCCC allele amounted to 87.72% of all nt16180 genotype,while AAAACCCCCCCCCCCCC was firstly reported in Han population.CCCCCCCCTCCCCCC allele amounted to 60.53% of all nt310 genotype.15 haplotypes were detected among 114 samples.The GD value was 0.630 9.The AAAACCCCCTCCCC-CCCCCCCCTCCCCCC haplotype was the most high frequency and amounted to 57.89%.Conclusion The obtained basic genetic data in two loci of nt16180 and nt310 of mtDNA will be useful for forensic science.