Identification and assessment of a subset of Y-SNPs with recurrent mutation for forensic purpose. (May 2022)

• Record Type: Journal Article
• Authors: Zhou, Zhihan; Zhou, Yuxiang; Li, Zhimin; Yao, Yining; Yang, Qinrui; Qian, Jinglei; Shao, Chengchen; Qian, Xiaoqin; Sun, Kuan; Tang, Qiqun; Xie, Jianhui
• Is Part Of: Forensic science international. Volume 334(2022)
• Publication Date: 2022-05
• Subjects: Y-SNP -- Recurrent mutation -- Y-chromosomal haplogroup -- Forensic genetics; Medical jurisprudence -- Periodicals; Chemistry, Forensic -- Periodicals; Forensic Medicine -- Periodicals; Médecine légale -- Périodiques; Chimie légale -- Périodiques; Gerechtelijke geneeskunde; Gerechtelijke chemie; Gerechtelijke psychiatrie; Chemistry, Forensic; Medical jurisprudence; Electronic journals; Periodicals; Electronic journals; 614.1
• DOI: 10.1016/j.forsciint.2022.111270
• Languages: English
• ISSNs: 0379-0738

Abstract

Abstract: Y chromosome has an important role in the forensic practice due to its unique paternal inheritance pattern. Y-chromosomal single nucleotide polymorphisms (Y-SNPs) could provide supplementary information while the application of Y-chromosomal STR (Y-STR) haplotypes encounter their limitations. Y-SNPs with recurrent mutation can be seen in different Y-chromosomal haplogroups, which might help discriminate different paternal pedigrees. In this study, a host of candidate Y-SNPs with recurrent mutation were obtained based on population data from 1000 Genome Project. Further, 8 Y-SNPs from a small part of candidates were confirmed to be polymorphic in 2 or more Y-chromosomal haplogroups (sub-haplogroups) in the Chinese Han population. With a haplotype diversity value of 0.9367, the investigated subset of Y-SNPs with recurrent mutation shows a high discrimination power. Therefore, Y-SNPs with recurrent mutation should function as useful markers to provide information in the forensic applications. Highlights: A batch of candidate Y-SNP loci with recurrent mutation were screened through Y-SNP files from 1000 Genome Project. A subset of Y-SNPs with recurrent mutation were identified. The haplotype diversity value of Y-SNPs with recurrent mutation is relatively high.