Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836–0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father–son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RM Y-STRs in identifying and separating unrelated and related males and provides a reference database.
X chromosomal short tandem repeats have the potential to complement the analyses of the autosomal, Y chromosomal, and mitochondrial DNA markers in forensics and population genetics, and extensive research on X chromosomal markers is being carried out. In the present study, a decaplex for the co-amplification of ten X chromosomal microsatellite loci (DXS6807, DXS8378, DXS7132, DXS6809, DXS6789, DXS101, DXS7133, GATA172D05, HPRTB, and GATA31E08) was optimized and 749 blood samples of unrelated male individuals from the four major linguistic families of India were analyzed. The number of alleles for the studied loci ranged from 7-16 while the gene diversity values varied from 0.408 to 0.855. Two new alleles were observed for the loci DXS101 and HPRTB. Statistical parameters of forensic interest were calculated and all loci were found to be polymorphic. High power of discrimination was observed for the loci DXS101, DXS6809, and DXS6789. The present study demonstrates the efficacy of these X-linked markers for human identification and kinship analysis.
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