Genetic investigation of 124 SNPs in a Myanmar population using the Precision ID Identity Panel and the Illumina MiSeq

被引:1
|
作者
Joo, Su Min [1 ,2 ]
Kwon, Ye-Lim [1 ,2 ]
Moon, Mi Hyeon [1 ,2 ]
Shin, Kyoung-Jin [1 ,2 ]
机构
[1] Yonsei Univ, Coll Med, Dept Forens Med, 50-1 Yonsei Ro, Seoul 03722, South Korea
[2] Yonsei Univ, Grad Sch Med Sci, Brain Korea Project 21, 50-1 Yonsei Ro, Seoul 03722, South Korea
来源
LEGAL MEDICINE | 2023年 / 63卷
关键词
Single nucleotide polymorphisms; Myanmar population; Precision ID Identity Panel; Human identification; Next-generation sequencing; Illumina platform; MUTATION-RATE; IDENTIFICATION; ASSAY;
D O I
10.1016/j.legalmed.2023.102256
中图分类号
DF [法律]; D9 [法律]; R [医药、卫生];
学科分类号
0301 ; 10 ;
摘要
Single nucleotide polymorphisms (SNPs) have become popular in forensic genetics as an alternative to short tandem repeats (STRs). The Precision ID Identity Panel (Thermo Fisher Scientific), consisting of 90 autosomal SNPs and 34 Y-chromosomal SNPs, enabled human identification studies on global populations through next-generation sequencing (NGS). However, most previous studies on the panel have used the Ion Torrent plat-form, and there are few reports on the Southeast Asian population. Here, a total of 96 unrelated males from Myanmar (Yangon) were analyzed with the Precision ID Identity Panel on a MiSeq (Illumina) using an in-house TruSeq compatible universal adapter and a custom variant caller, Visual SNP. The sequencing performance evaluated by locus balance and heterozygote balance was comparable to that of the Ion Torrent platform. For 90 autosomal SNPs, the combined match probability (CMP) was 6.994 x 10-34, lower than that of 22 PowerPlex Fusion autosomal STRs (3.130 x 10-26). For 34 Y-SNPs, 14 Y-haplogroups (mostly O2 and O1b) were observed. We found 51 cryptic variations (42 haplotypes) around target SNPs, of which haplotypes corresponding to 33 autosomal SNPs decreased CMP. Interpopulation analysis revealed that the Myanmar population is genetically closer to the East and Southeast Asian populations. In conclusion, the Precision ID Identity Panel can be suc-cessfully analyzed on the Illumina MiSeq and provides high discrimination power for human identification in the Myanmar population. This study broadened the accessibility of the NGS-based SNP panel by expanding the available NGS platforms and adopting a robust NGS data analysis tool.
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页数:6
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