Aim: Genetic diversity and forensic efficacy of 20 autosomal STR genetic markers were investigated in a highly diverse population of Rajasthan, a state in north-western India.Subjects and methods: In this study, 317 blood samples from unrelated healthy individuals were directly amplified using the PowerPlex® 21 multiplex system (Promega). Amplified products were separated by capillary electrophoresis using a Genetic Analyser -3500 XL (Thermo Fisher Scientific). The data thus obtained was statistically analysed using population genetic software.Results: The studied population showed genetic affinity with the geographically close populations. The locus Penta-E was found to be the most polymorphic with a value of 0.90 in the studied population. The combined discrimination power (CPD) and combined power of exclusion (CPE) were observed as >0.999999999 and 0.999999997, respectively, for all the studied 20 autosomal STR loci. The combined probability of match (CPm) was 1.39 × 10-25 and combined paternity index (CPI) was 3.66 × 108 for all the studied loci.Conclusion: The results conclusively support the hypothesis that the studied autosomal STR loci are polymorphic in nature and, besides being useful in forensic applications they can also be applied in anthropological and other population genetic studies. This study supports the 'isolation-by-distance' model. Genetic data obtained from this study will enrich the population data bank.

中文翻译：

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基于常染色体STR标记的拉贾斯坦邦人口基因组蓝图。

目的：在印度西北部一个邦的拉贾斯坦邦高度多样化的人群中，研究了20种常染色体STR遗传标记的遗传多样性和法医功效。研究对象和方法：在本研究中，直接使用非亲缘健康个体的317个血液样本进行了扩增PowerPlex®21多路复用系统（Promega）。使用Genetic Analyzer -3500 XL（Thermo Fisher Scientific）通过毛细管电泳分离扩增产物。结果：使用种群遗传软件对所得数据进行了统计分析。结果：研究的种群与地理上较近的种群具有遗传亲和力。发现在研究的群体中，Penta-E基因座的多态性最高，值为0.90。观察到的组合判别力（CPD）和排除的组合力（CPE）> 0。对于所有研究的20个常染色体STR位点分别为999999999和0.999999997。所有研究基因座的匹配总机率（CPm）为1.39×10-25，亲子鉴定指数（CPI）为3.66×108。结论：结论完全支持以下假设：所研究的常染色体STR基因座本质上是多态的。除了可用于法医应用外，还可用于人类学和其他人口遗传学研究。该研究支持“距离隔离”模型。从这项研究中获得的遗传数据将丰富人口数据库。结果最终支持了以下假设：所研究的常染色体STR基因座本质上是多态的，除可用于法医学应用外，它们还可用于人类学和其他人群遗传学研究。这项研究支持“距离隔离”模型。从这项研究中获得的遗传数据将丰富人口数据库。结果最终支持了以下假设：所研究的常染色体STR基因座本质上是多态的，除可用于法医学应用外，还可用于人类学和其他群体遗传学研究。该研究支持“距离隔离”模型。从这项研究中获得的遗传数据将丰富人口数据库。