DXS8378基因座等位基因分型标准物的制备及其遗传多态性  

Construction of DXS8378 allelic ladder and the genetic polymorphism in three Chinese populations

作　　者：沈靓[1] 魏曙光[1] 王科[1] 李正堃[1] 赖江华[1] 

机构地区：[1]西安交通大学医学院法医系

出　　处：《西安交通大学学报（医学版）》2008年第3期252-255,共4页Journal of Xi’an Jiaotong University（Medical Sciences）

基　　金：教育部科技基础条件平台项目(No.505015);西安市科技攻关计划项目(No.GG05150)

摘　　要：目的采用分子克隆技术制备X染色体DXS8378位点等位基因分型标准物,了解该STR位点在中国云南傈僳、普米、德昂三个群体的遗传多态性及其法医学应用价值。方法用PCR扩增和变性聚丙烯酰胺凝胶电泳技术,分离各等位基因片段,回收纯化后进行二次扩增,分别插入到pGEM(-T Easy质粒载体中,DNA测序证实插入片段的大小和结构,等位基因片段按国际标准进行命名后,经转化、扩大培养、扩增及再鉴定后制备出该位点的等位基因分型标准物,进行群体遗传学研究。结果得到DXS8378位点分型标准物,应用此分型标准物研究中国云南傈僳、普米、德昂族人群中基因型分布频率。结论该法制备的STR位点等位基因分型标准物适用于法医学鉴定实践,具有较高的应用价值,适合于群体遗传学的分析。Objective To investigate the genetic polymorphism of DXS8378 STR locus of chromosome X in Chinese Lisu, Pumi and De＇ang populations in Yunnan and construct relative standard allelic ladders. Methods After being amplified by. PCR, different STR allelic fragments were isolated from the PAG electrophoresis. The STR allelic fragments were extracted by kit and reamplified by PCR to obtain purified allelic fragments. Next, the purified allelic fragments were subcloned individually into the PUC plasmid vectors, and the size and structure of the inserts were confirmed by the analysis of their DNA sequences. Then we transfected it into competent E. coli DH5 α TM cells, and finally, the recombinant plasmids DNA with the inserts were used as template for reamplification to generate the standard ladders. Results The standard allelic ladder for DXS8378 locus was obtained, with which the genetic polymorphisms of DXS8378 locus in three Chinese populations in Yunnan were studied. Conclusion The standard ladder made by this method is excellent, and DXS8378 is powerful for forensic practice in Chinese population.

关 键 词：分型标准物 短串联重复序列 重组质粒 遗传多态性 DXS8378 

分 类 号：R395.2[哲学宗教—心理学]