DXS6804基因座等位基因分型标准物的克隆制备及其群体遗传学研究

目的用分子克隆技术制备DXS6804基因座等位基因分型标准物,并用于中国云南普米族人群的群体遗传学研究,解决长期困扰短串联重复序列分型上存在的准确性和标准化问题。方法用PCR扩增出DXS6804基因座的各等位基因片段,PCR产物克隆后,DNA测序证实插入片段的大小和结构,按国际标准进行命名后,经扩大培养、扩增及再鉴定后,制备出该基因座的等位基因分型标准物,进行群体研究。结果调查了中国云南地区普米族人群基因座的基因型分布频率,发现DXS6804基因座两个分型标准物外等位基因。结论分子克隆技术是制备等位基因分型标准物的可靠方法,DXS6804基因座是一个适合我国法医学和群体遗传学分析的遗传标记。

Study on the construction of standard DXS6804 allelic ladder via molecular cloning and its genetic polymorphism in Chinese yunnan pumi populations

Objective To resolve the problem of the accuracy and standardization of STR-PCR typing in forensic practice,construct DXS6804 allelic ladder by molecular clonning and apply them in a population study on the Pumi population in Yunnan,China.Methods PCR was used to produce several different allelic fragments of the locus.After cloning the PCR products,the recombinant plasmids were sequenced.Then we denominated them and used them as template for re-amplification to generate the locus standard ladder.Results The sequencing results confirmed that the size and the construction of the inserts were correct.The genetic polymorphisms of this locus in Yunnan Pumi population of China were studied.Two off-ladder alleles of DXS6804 locus were found.Conclusion This method is of high value for forensic DNA typing to construct standard ladders.DXS6804 is robust for genetic research and forensic application.