网络首发:2013-03-20,
纸质出版:2013
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30个插入/缺失多态性位点在中国广东汉族人群中的遗传多态性[J]. 中山大学学报(医学科学版), 2013,34(2).
Genetic Polymorphisms of 30 Indel Loci in Guangdong Han Population[J]. Journal of Sun Yat-sen University (Medical Sciences), 2013, 34(2).
【目的】 调查Investigator R 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?誖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 R 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 R 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 multiamplified with Investigator R DIPplex kit. The PCR products were separated with arrayed capillary electrophoresis and genotyped with GeneMapper IDX v1.2 software. Forensic parameters were calculated with relevant statistical analysis software. 【Results】 All the 30 loci showed no significant departure from HardyWeinberg 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.
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