A 16-plex Y-SNP typing system based on allele-specific PCR for the genotyping of Chinese Y-chromosomal haplogroups. (September 2020)

• Record Type: Journal Article
• Authors: Zhou, Zhihan; Zhou, Yuxiang; Yao, Yining; Qian, Jinglei; Liu, Baonian; Yang, Qinrui; Shao, Chengchen; Li, Hui; Sun, Kuan; Tang, Qiqun; Xie, Jianhui
• Is Part Of: Legal medicine. Volume 46(2020)
• Publication Date: 2020-09
• Subjects: Allele-specific PCR -- Y-chromosomal SNPs -- Y-chromosomal haplogroup -- Multiplex typing system; Medical jurisprudence -- Periodicals; Forensic Medicine -- Periodicals; Médecine légale -- Périodiques; Medical jurisprudence; Periodicals; 614.1
• DOI: 10.1016/j.legalmed.2020.101720
• Languages: English
• ISSNs: 1344-6223

Abstract

Highlights: A novel multiplex Y-chromosomal SNP typing system was developed based on AS-PCR. An efficient strategy to discriminate dominant haplogroups of Chinese population. The haplogroup diversity value reached 0.9239. Abstract: Y-chromosomal SNP (Y-SNP), with its stable inheritance and low mutation, can provide Supplementary information in forensic investigation. While commonly used Y-chromosomal STR haplotypes show their limitations, typing of Y-SNP would become a powerful complement. In this study, a 16-plex Y-SNP typing system based on allele-specific PCR (AS-PCR) was developed to discriminate four dominant Y-chromosomal haplogroups (C-M130, D-CTS3946, N-M231, and O-M175) and 12 predominant sub-haplogroups of O-M175 (O1a-M119, O1a1a1a-CTS3265, O1b-M268, O1b1a2-Page59, O2-M122, O2a1-L127.1, O2a1b-F240, O2a1b1a1-CTS5820, O2a2-P201, O2a2b1a1-M177, O2a2b1a1a1a-Y17728, O2a2b1a2-F114). A series of experimental validation studies including sensitivity, species specificity, male-female mixture and inhibition were performed. The discrimination of the typing system was preliminarily proved with a haplogroup diversity of 0.9239. Altogether, the Y-SNP typing system based on AS-PCR should be capable of distinguishing China's dominant Y-chromosomal haplogroups in a rapid and reliable manner, thus can be employed as a useful complement in forensic casework.