云南白族民家支系18个常染色体STR位点的遗传多态性

Population Genetic Analysis of 18 Autosomal STR Loci in Minjia Branch of Bai Ethnic Group in Yunnan Province, Southwest China

目的调查云南白族民家支系2323个健康无亲缘关系个体18个STR基因座的遗传多态性,计算群体遗传学参数,建立云南白族民家支系群体的遗传学基础数据,为司法鉴定工作中的亲子鉴定和个体识别提供可靠的科学依据。方法收集2323份云南白族民家支系人群无关个体样本,采用DNATyperTM19试剂盒,进行直接PCR复合扩增,用AB 3130XL自动遗传分析仪进行毛细管电泳分离,用GeneMapper ID-X 1.5软件对分离的STR进行分型。使用Modified-Powerstats软件统计等位基因频率,进行Hardy-Weinberg平衡(HWE)检验,计算匹配概率等法医学参数。使用Arlequin软件计算Fst和P值。使用Phylip软件计算Nei’s遗传距离。使用SPSS软件进行多维尺度(MDS)分析。应用Mega软件构建相邻连接(NJ)系统发育树。结果18个STR基因座中共观察到230个等位基因和1073种基因型。除D13S317基因座不符合Hardy-Weinberg平衡(P=0.0008)外,其余基因座等位基因频率和基因型频率均符合Hardy-Weinberg平衡(P>0.05/18=0.0028)。18个STR基因座的累积个人识别能力(CDP)达0.999999999,累积非父排除概率(CPE)达0.99999994055。Fst值、Nei's遗传距离以及NJ系统发育树的结果均提示,白族民家支系与云南布朗族和云南佤族相距较远,而与大理白族和怒江白族相距较近。结论上述18个STR基因座在云南白族民家支系群体中具有高度多态性,可用于司法鉴定和群体遗传结构研究。

Objective To investigate the genetic polymorphism of 18 autosomal short tandem repeats(STR) loci in 2 323 healthy unrelated individuals of Minjia branch of Bai ethnic group in Yunnan,calculate the population genetic parameters,and establish the genetic data of Minjia branch of Bai ethnic group in Yunnan,so as to provide the scientific basis for the parental identification and individual identification of forensic material evidence.Methods A total of 2 323 unrelated individuals from Minjia branch of Bai ethnic group population were collected.DNA Typer;19 kit was used for direct PCR compound amplification. AB 3130XL automatic genetic analyzer was used to separate the PCR compound amplification products by capillary electrophoresis. STR typing was performed with GeneMapper ID-x 1.5 software. Forensic parameters,such as allele frequency and matching probability,were calculated by Modified Powerstats software,and the hardy-Weinberg equilibrium(HWE) test was performed. The Fst and P values were calculated using Arlequin software. Nei’s genetic distance was calculated using Phylip software. Multi-dimensional scale(MDS) analysis was performed using SPSS software. The Neighbor-Joining(NJ)phylogenetic tree was constructed by Mega software. Results A total of 230 alleles and 1 073 genotypes were observed at 18 STR loci. Except that D13S317 loci was not in accord with Hardy-Weinberg equilibrium(P =0.000 8), the allele frequencies and genotype frequencies of other loci were consistent with Hardy-Weinberg equilibrium(P > 0.05/20 = 0.002 5). The cumulative discrimination power(CDP) and cumulative probability of exclusion(CPE) of 18 STR loci were 0.999 999 999 and 0.999 999 940 55,respectively. The results of Fst,Nei’s genetic distance and NJ phylogenetic tree indicated that the Minjia branch of Bai ethnic group was close to the Bai ethnic group in Nujiang and the Bai ethnic group in Dali,but far away from the Bulang ethnic group in Yunnan and Va ethnic group in Yunnan. Conclusion The 18 STR loci mentioned above show the high genetic polymorphism in the Minjia branch of Bai ethnic group and they can be used for the forensic identification and population genetics research.