作　　者： ; ; ; ; ; ; ; ;

机构地区： 中山大学中山医学院法医学系

出　　处： 《中山大学学报（医学科学版）》 2013年第2期299-304,共6页

摘　　要： 【目的】调查Investigator DIPplex体系包含的30个插入/缺失多态性(Indel)位点在中国广东汉族人群中的群体遗传学数据,评估其法医学应用价值。【方法】采集300名广东汉族无关个体(150名男性,150名女性)外周血样,提取样本DNA,采用Investigator DIPplex体系对HLD77等30个Indel位点进行复合扩增,阵列毛细管电泳进行扩增产物分离,GeneMapper ID-X v1.2软件进行基因分型,使用相关统计软件计算常用法医学参数并进行Hardy-Weinberg平衡及位点间连锁不平衡的检验。【结果】30个Indel位点在广东汉族人群中均符合Hardy-Weinberg平衡(P>0.05),经Bonferroni法校正后不存在连锁不平衡现象。各位点平均杂合度(Ho)为0.406,平均个体识别力(DP)为0.549,平均多态信息含量(PIC)为0.320,累积个体识别率(TDP)为0.999 999 999 98。30个Indel位点的三联体累积非父排除率(CPEtri)为0.994 748,二联体累积非父排除率(CPEduo)为0.942 342。【结论】InvestigatorDIPplex试剂盒中包含的30个Indel位点在广东汉族人群中具有良好的遗传多态性,可独立用于法医实践中的个体识别,在STR存在突变等特殊亲子鉴定案件中也可作为有效的补充检测体系。 [Objective] To explore the polymorphic distribution of 30 Indel loci included in Investigator DIPplex system and evaluate its potential forensic application in Guangdong Han population. [Methods] DNA samples were extracted from 300 unrelated individuals （150 males and 150 females） and 30 Indel loci were multi-amplified with Investigator DIPplex kit. The PCR products were separated with arrayed capillary electrophoresis and genotyped with GeneMapper ID-X vl.2 software. Forensic parameters were calculated with relevant statistical analysis software. [ Results] All the 30 loci showed no significant departure from Hardy-Weinberg equilibrium or linkage disequilibrium after Bonferroni＇s correction. The average heterozygosity （Ho） was 0.406, the mean discrimination power （DP） was 0.549, the mean polymorphism information content （PIC） was 0.320, the combined discrimination power （TDP） reached 0.999 999 999 98. The combined power of exclusion was 0.994 748 in trio cases （CPEtri） and 0.942 342 in duo cases （CPEduo）. [Conclusion] The 30 loci denotes good genetic diversity in Guangdong Han population, which could be used for individual identification independently and be used as a supplemental tool for some special paternity testing cases when STR mutated.

关 键 词： 法医遗传学 插入 缺失多态性 广东汉族人群

领　　域： [生物学] [生物学]