Structure and polymorphism of 16 novel Y-STRs in Chinese Han Population

Abstract

ABSTRACT. Y-chromosome short tandem repeats (Y-STRs) are useful tools for identifying paternity origin and male-female mixed samples because of their male-specificity, haploid inheritance and relatively simplicity. We focused on novel Y-STRs deposited in the human Genome database from DYS708 to DYS726. We typed 16 malespecific Y-STRs from males of a Chinese Han population residing in Shanxi Province (north China), including DYS708-719, DYS721-723, and DYS726, but failed in typing DYS720, DYS724 and DYS725. The 16 Y-STRs, with mean gene diversity (GD) of 0.79, included three trinucleotide Y-STRs (711, 718, 719), nine tetranucleotide STRs (708, 709, 710, 712, 713, 715, 722, 723, 726) and four pentanucleotide repeat STRs (714, 716, 717, 721). DYS712, consisting of eight alleles, was the most informative STR in our population, with a GD of 0.843. The STRs were classified as simple STRs and complex STRs, according to their structures based on sequencing. Genetic indexes, including allele frequencies, haplotype distribution and male-specificity were determined. The Y-STRs, especially those male-specific, tetra-and penta-nucleotide, with only one copy on Y-chromosome, and relative simple structures, such as DYS709, DYS714, DYS715, DYS716, DYS718, DYS719, and DYS726, were suggested for the future forensic DNA analysis, while DYS724 and DYS725 were not recommended for their multi-copy distribution. The population data provided putative Y-STRs for future genetic and forensic applications.

Identification and characterization of novel rapidly mutating Y‐chromosomal short tandem repeat markers

“…Three of those markers had only population data and no mutation data previously reported: DYS711 (Leat et al, 2007;Maybruck et al, 2009;Zhang, Yang, Niu, & Guo, 2012); DYS712; DYS713 (Leat et al, 2007;Liu et al, 2019;Maybruck et al, 2009;Zhang et al, 2012). For one of the previously discovered Y-STR markers, DYS724, mutation data were previously inferred from population data (Chandler, 2006) and later from deep-rooted pedigrees (Boattini et al, 2019;Claerhout et al, 2018), while mutation data from comprehensive father-son pair analysis as in the present study were not previously reported.…”

“…The previously discovered Y‐STRs were: DYS713 (Leat, Ehrenreich, Benjeddou, Cloete, & Davison, 2007), later also described as DYS685 (Maybruck, Hanson, Ballantyne, Budowle, & Fuerst, 2009); DYS711 (Leat et al, 2007), later also described as DYS688 (Maybruck et al, 2009); DYS712 (Leat et al, 2007); and CDY (included in commercial products of FamilyTreeDNA), later also described as DYS724 (Jacobs et al, 2009). Three of those markers had only population data and no mutation data previously reported: DYS711 (Leat et al, 2007; Maybruck et al, 2009; Zhang, Yang, Niu, & Guo, 2012); DYS712; DYS713 (Leat et al, 2007; Liu et al, 2019; Maybruck et al, 2009; Zhang et al, 2012). For one of the previously discovered Y‐STR markers, DYS724, mutation data were previously inferred from population data (Chandler, 2006) and later from deep‐rooted pedigrees (Boattini et al, 2019; Claerhout et al, 2018), while mutation data from comprehensive father–son pair analysis as in the present study were not previously reported.…”

“…Next to the identified 12 RM Y‐STRs, the mutation rate data allowed classifying 10 of the 27 cRM Y‐STR markers (37%) as FM Y‐STRs with mutation rates between 5 × 10 −3 and 1 × 10 −2 , representing nine novel Y‐STRs markers not previously described at all. One Y‐STR markers was previously discovered (Leat et al, 2007), and population data were published: DYS714 (Leat et al, 2007; Liu et al, 2019; Zhang et al, 2012). One of the nine novel FM Y‐STRs is also used by FamilyTreeDNA under the name: DYR33, but no marker information was found in scientific publications.…”

“…One Y-STR markers was previously discovered (Leat et al, 2007), and population data were published: DYS714 (Leat et al, 2007;Liu et al, 2019;Zhang et al, 2012). One of the nine novel FM Y-STRs is also used by FamilyTreeDNA under the name: DYR33, but no marker information was found in scientific publications.…”

Multiplex Y-STRs analysis using the ion torrent personal genome machine (PGM)

“…Compared to autosomes, however, the genetic variety on the Y chromosome has appeared to be relatively low due to the lack of recombination [5,6]. Therefore, more markers or advanced techniques for extracting more genetic information (e.g.…”