Mutation Studies of 31 Highly Mutated Y-chromosomal Short Tandem Repeat Systems in the Han Population of Northern China

A six-color fluorescent multiplex amplification system for 31 Y-chromosomal short tandem repeats(Y-STRs)(DYS19,DYS390,DYS391,DYF399S1,DYF404S1,DYS439,DYS444,DYS449,DYS452,DYS456,DYS458,DYS460,DYS481,DYS508,DYS513,DYS516,DYS518,DYS543,DYS547,DYS549,DYS552,DYS557,DYS570,DYS576,DYS612,DYS622,DYS626,DYS627,DYS630,DYS635,and Y-GATA-A10)was developed for investigating the mutation rates of 31 highly mutated Y-STR genes in the Han population of northern China.The mutation rates of the 31 highly mutated Y-STRs were calculated using the father-son pair study method after typing 526 Northern Han father-son pairs with this system.Statistically,148 Y-STR mutations were found,with mutation rates ranging from 0(95%confidence interval[CI]0 to 9.0×10^(−3),DYS622)to 7.0×10^(−2)(95%CI 5.1×10^(−2)to 9.7×10^(−2),DYF399S1).Out of these,126 father-son pairs were successfully identified,with a distinction rate of 24.0%(95%CI 20.4%-27.9%).The ability of the 31 highly mutated Y-STRs to distinguish closely related males from the same paternal lineage in the Northern Han population is extremely valuable for criminal investigations and other purposes.

Genetic Polymorphism of 38 Y-chromosome Short Tandem Repeats in Beijing Han Population from China

Objective:To investigate 38 Y-chromosome short tandem repeat(Y-STR)genetic polymorphisms in Beijing Han and analyze the genetic distance with neighboring or linguistically similar populations.Materials and Methods:In the study,we selected 531 unrelated male individuals of Beijing Han,and the results were statistically analyzed by testing with GSTAR™41Y reagents.Results:The allele peak heights were balanced among the Y loci,the amplified fragment ranged from 100 to 500 bps.A total of 531 haplotypes were detected in 531 samples.Eight null genotypes were observed on locus DYS448.One and three double alleles were observed on single-copy locus DYS576 and DYS19,respectively.DYS385 a/b,DYF387S1 a/b,and DYS527 a/b were more common in double copies,but 3,13,and 11 triple alleles were detected,respectively.The gene diversity values of Y-STRs except DYS391,DYS438,and DYS645 were>0.5.Twenty-seven Y-STRs of Beijing Han population were selected for genetic distance comparison with 17 populations including Changchun Han,with Rst values ranging from 0.0002 to 0.1703.Conclusion:The 38 Y-STRs in this study have strong male lineage identification ability and have great potential for individual identification,kinship identification,Y-STR database construction,and genetic relationship research.

Y‑STR Kits and Y‑STR Diversity in the South African Population: A Review

The South African population consists of four ethnic groups,i.e.,Blacks,Coloreds,Indians,and Whites,and is considered the most diverse conglomeration of humans.In addition to autosomal short tandem repeat(STR)variation,an important tool to study population diversity is Y-chromosome(Y)-STR analysis.Y-STRs aid in forensic investigations and provide essential data about paternal lineage origins.Y-STR kits consisting of an array of stable and rapidly mutating markers offer crucial information on a given population’s genetic and haplotype diversity.This review discusses the development of Y-STR kits over the years and highlights some prominent Y-STR studies conducted on the South African population.The earliest Y-STR kit developed was the Y-PLEX™6,with the most recent being the UniQTyper™Y-10 Multiplex.The South African population studies show varying data,with the“minimal haplotype”having low discrimination capacity among the ethnic groups and the UniQTyper™Y-10 showing high genetic diversity among the ethnic groups of the country.There is a dearth of Y-STR studies on the South African population.With the advent of new Y-STR kits with increased discriminatory markers,additional studies are required to represent the South African population in the Y-STR databases.Considering the diversity of the South African population,establishment of a local/regional population database would be beneficial.In addition,data on the origins and prevalence of mutations and silent alleles should be obtained from STR datasets generated during kinship investigations(specifically,parentage tests)so that detailed information about the frequencies of mutations,silent alleles,and uniparental disomy in the South African population at Y STR loci can be estimated.