Convergence of Y chromosome STR haplotypes from different SNP haplogroups compromises accuracy of haplogroup prediction

2013/10/21 by Chuan‐Chao Wang, Wang, Chuan-Chao, Ling-Xiang Wang +13
Biochemistry, Genetics and Molecular Biology · #FOS: Biological sciences #Forensic and Genetic Research #Genetic Associations and Epidemiology #Genetic diversity and population structure #Populations and Evolution (q-bio.PE)

paper · pdf · doi:10.48550/arxiv.1310.5413

openalex publication_date 2013/10/21 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28

Abstract

Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) are two kinds of commonly used markers in Y chromosome studies of forensic and population genetics. There has been increasing interest in the cost saving strategy by using the STR haplotypes to predict SNP haplogroups. However, the convergence of Y chromosome STR haplotypes from different haplogroups might compromise the accuracy of haplogroup prediction. Here, we compared the worldwide Y chromosome lineages at both haplogroup level and haplotype level to search for the possible haplotype similarities among haplogroups. The similar haplotypes between haplogroups B and I2, C1 and E1b1b1, C2 and E1b1a1, H1 and J, L and O3a2c1, O1a and N, O3a1c and O3a2b, and M1 and O3a2 have been found, and those similarities reduce the accuracy of prediction.

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