摘要目的 调查9个非DNA联合索引系统(DNA combined index system,CODIS)的短串联重复序列(short tandem repeat,STR)基因座在河北汉族人群的等位基因分布,评估其在亲子鉴定中的应用价值.方法 应用 STRtyper 10G试剂盒调查147名河北汉族健康无关个体基因分型,计算群体遗传学参数;进行14例缺乏母亲的单亲鉴定及2例发生突变的三联体亲子鉴定.结果 (1)9个STR基因座在147名河北汉族无关个体中共检出99种等位基因和336种基因型,基因分布符合Hardy-Weinberg平衡,累计个体识别率＞0.999 999 999,累计三联体非父排除率达到0.999 974,累计二联体非父排除率达0.998 759.(2)14例单亲鉴定案例及2例发生突变的三联体亲子鉴定案例,联合应用ID及STRtyper 10G试剂盒,明显提高了认定父权的可能性.结论 9个非CODIS STR基因座在中国河北汉族人群具有较高的遗传多态性,对于单亲鉴定、发生突变的案件、以及其它一些复杂的亲缘关系鉴定案件,可作为IdentifilerTM或PowerPlex-16TM的有益的补充系统,具有较好的法医学应用价值.

abstractsObjective To investigate the polymorphisms of 9 non-DNA combined index system(CODIS) short tandem repeats (STRs), i. e., D7S3048, D8S1132, D11S2368, D2S1772, D6S1043,D13S325, D12S391, GATA198B05, D18S1364 in Hebei Han population, and evaluate the usage of them in paternity testing. Methods One hundred and forty-seven unrelated healthy individuals from the Han population of Hebei province were genotyped using STRtyper10G kit including 9 STR loci on ABI 3130 Genetic Analyzer. Hardy-Weinberg equilibrium and population genetic parameters were calculated. Fourteen cases of motherless paternity testing and 2 cases of standard trios with mutation in 1 locus were detected using STRtyper 10G. Results (1) Ninety-nine alleles and 336 genotypes were observed in the 9 STR loci in the population. The cumulative discrimination power(DP) was higher than 0. 999 999 999. The cumulative probability of exclusion(PE) for trios and duos were 0. 999 974 and 0. 998 759 respectively. Departure from Hardy-Weinberg equilibrium was not observed in any of the 9 loci. (2) The combined paternity index (PI)of the 14 cases of motherless paternity testing ranged from 103-104 for 15 STR loci in ID, whereas it reached 105-109 for 22 independent STR loci included in ID and STRtyper 10G. Possible mutation in FGA and vWA was observed in 2 cases of trios, and the combined PI was 5945 and 1840 respectively for 15 STR loci in ID.Adding STRtyper 10G to detect these 2 cases, the combined PI reached 2. 76 × 107 and 4. 88 × 107respectively. Conclusion The genetic polymorphism of the 9 non-CODIS STR loci included in STRtyper 10G was quite high in Chinese Hebei Han population, indicating the 9 STR loci are valuable as complement markers for ID and PP16 kit in motherless paternity testing, paternity testing with mutation and other kinds of complicated paternity testing.