Forensic insights into genetic polymorphism and tri-allelic pattern in the Brahmin population of Gujarat, India, using 21 autosomal STR markers.

IF 2.3 3区 医学 Q1 MEDICINE, LEGAL
Ankita Arunrao Fulkar, Vrunda Dave, Malay Ashvinkumar Shukla
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引用次数: 0

Abstract

India's genomic diversity is influenced by regional population dynamics and strong endogamy. The present study explores the genetic structure of the Brahmin population in Gujarat, a culturally and genetically preserved community, using autosomal Short Tandem Repeats (STR). Genomic DNA from the blood samples of 819 healthy individuals (562 males and 257 females) were subjected to autosomal STR typing using the GlobalFiler™ Express PCR Amplification Kit. Capillary electrophoresis-based fragment analysis was performed using the ABI 3500 Genetic Analyser, and proceeded to genotype analysis using GeneMapper ID-X. In total, 74 alleles were assessed with observed heterozygosity (Ho) of 0.80 ± 0.01, expected heterozygosity (He) of 0.79 ± 0.02, and unbiased expected heterozygosity (uHe) of 0.79 ± 0.02. Hardy-Weinberg equilibrium was followed by most of the markers except D16S539 and D3S1358. Forensic efficiency measures (PIC = 0.63-0.95; PD = 1; PE = 0.99999) confirmed the significance of these markers for genetic and forensic research. Additionally, comparative genomic analysis using principal component analysis (PCA) and multidimensional scaling (MDS) revealed close genetic affinity between Brahmins of Gujarat and Brahmins from Haryana and Rajasthan. These findings enhance the genetic makeup of the Brahmin population of Gujarat. Additionally, a novel germline-origin Type 2 tri-allelic pattern (8, 9, 11) at the D13S317 locus was identified in a healthy male participant, which was traced to a Type 2(B) tri-allelic variant at the same locus in his biological mother. These findings highlight the need for understanding the tri-allelic pattern for its appropriate interpretation in STR analysis.

使用21个常染色体STR标记对印度古吉拉特邦婆罗门人群遗传多态性和三等位基因模式的法医见解。
印度的基因组多样性受到区域人口动态和强大的内婚制的影响。本研究利用常染色体短串联重复序列(STR)研究了古吉拉特邦婆罗门人口的遗传结构,这是一个文化和遗传保存的社区。使用GlobalFiler™快速PCR扩增试剂盒对819名健康个体(562名男性和257名女性)血液样本的基因组DNA进行常染色体STR分型。使用ABI 3500基因分析仪进行毛细管电泳片段分析,并使用GeneMapper ID-X进行基因型分析。共检测到74个等位基因,观察杂合度(Ho)为0.80±0.01,期望杂合度(He)为0.79±0.02,无偏期望杂合度(uHe)为0.79±0.02。除D16S539和D3S1358外,其余标记均符合Hardy-Weinberg平衡。法医效率测量(PIC = 0.63-0.95; PD = 1; PE = 0.99999)证实了这些标记对遗传和法医研究的意义。此外,利用主成分分析(PCA)和多维尺度分析(MDS)的比较基因组分析显示,古吉拉特邦婆罗门与哈里亚纳邦和拉贾斯坦邦婆罗门具有密切的遗传亲缘关系。这些发现增强了古吉拉特邦婆罗门人口的基因构成。此外,在一名健康男性参与者中,在D13S317位点发现了一种新的种系起源的2型三等位基因模式(8,9,11),该模式可追溯到其亲生母亲的同一位点的2(B)型三等位基因变异。这些发现强调了理解三等位基因模式的必要性,以便在STR分析中对其进行适当的解释。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
5.80
自引率
9.50%
发文量
165
审稿时长
1 months
期刊介绍: The International Journal of Legal Medicine aims to improve the scientific resources used in the elucidation of crime and related forensic applications at a high level of evidential proof. The journal offers review articles tracing development in specific areas, with up-to-date analysis; original articles discussing significant recent research results; case reports describing interesting and exceptional examples; population data; letters to the editors; and technical notes, which appear in a section originally created for rapid publication of data in the dynamic field of DNA analysis.
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