Dash Hirak Ranjan, Avila Eduardo, Jena Soumya Ranjan, Kaitholia Kamlesh, Agarwal Radhika, Alho Clarice Sampaio, Srivastava Ankit, Singh Anil Kumar
DNA Fingerprinting Unit, Forensic Science Laboratory, Bhopal, Madhya Pradesh, India.
Pontifical Catholic University of Rio Grande Do Sul, Porto Alegre, Brazil.
Int J Legal Med. 2022 Mar;136(2):465-473. doi: 10.1007/s00414-021-02742-5. Epub 2021 Nov 8.
With the advent of next-generation sequencing technology, SNP markers are being explored as a useful alternative to conventional capillary electrophoresis-based STR typing. Low mutation rate and short-sized amplicons are added advantages of SNP markers over the STRs. However, to achieve a sufficient level of discrimination among individuals, a higher number of SNPs need to be characterized simultaneously. Hence, the NGS technique is highly useful to analyze a sufficiently higher number of SNPs simultaneously. Though the technique is in its nascent stage, an attempt has been made to assess its usability in the central Indian population by analyzing 124 SNPs (90 autosomal and 34 Y-chromosome) in 95 individuals. Various quality parameters such as locus balance, locus strand balance, heterozygosity balance, and noise level showed a good quality sequence obtained from the Ion GeneStudio S5 instrument. Obtained frequency of SNP alleles ranged from 0.001 to 0.377 in autosomal SNPs. rs9951171 was found to be the most informative SNP in the studied population with the highest PD and lowest MP value. The cumulative MP of 90 SNPs was found to be 4.76698 × 10. Analysis of 34 Y-chromosome SNPs reveals 11 unique haplogroups in 54 male samples with R1a1 as the most frequent haplogroup found in 22.22% of samples. Interpopulation comparison by FST analysis, PCA plot, and STRUCTURE analysis showed genetic stratification of the studied population suggesting the utility of SNP markers present in the Precision ID Identity Panel for forensic demands of the Indian population.
随着下一代测序技术的出现,单核苷酸多态性(SNP)标记正被探索作为基于传统毛细管电泳的短串联重复序列(STR)分型的一种有用替代方法。与STR相比,SNP标记具有低突变率和短扩增子的额外优势。然而,为了在个体间实现足够的区分度,需要同时对更多数量的SNP进行特征分析。因此,下一代测序(NGS)技术对于同时分析足够多数量的SNP非常有用。尽管该技术尚处于起步阶段,但已尝试通过分析95名个体中的124个SNP(90个常染色体SNP和34个Y染色体SNP)来评估其在印度中部人群中的可用性。各种质量参数,如位点平衡、位点链平衡、杂合度平衡和噪声水平,表明从Ion GeneStudio S5仪器获得了高质量的序列。常染色体SNP中获得的SNP等位基因频率范围为0.001至0.377。在研究人群中,rs9951171被发现是信息最丰富的SNP,具有最高的个体识别力(PD)和最低的匹配概率(MP)值。发现90个SNP的累积MP为4.76698×10。对34个Y染色体SNP的分析揭示了54名男性样本中的11个独特单倍群,其中R1a1是在22.22%的样本中发现的最常见单倍群。通过固定指数(FST)分析、主成分分析(PCA)图和结构分析进行的群体间比较显示,研究人群存在遗传分层,表明Precision ID身份鉴定面板中的SNP标记对于印度人群的法医需求具有实用性。