Abstract
Y-chromosomal short tandem repeat (Y-STR) polymorphisms are useful in forensic identification, population genetics, and human structures. However, the current Y-STR systems are limited in discriminating distant relatives in a family with a low discrimination power. Increasing the capacity of detecting Y chromosomal polymorphisms will drastically narrow down the matching number of genealogy populations or pedigrees. In this study, we developed a system containing 17 Y-STRs that are complementary to the current commercially available Y-STR kits. This system was constructed by multiplex PCR with expected sizes of 126-400bp labeled by different fluorescence molecules (DYS715, DYS709, DYS716, DYS713, and DYS607 labeled by FAM; DYS718, DYS723, DYS708, and DYS714 labeled by JOE; DYS712, DYS717, DYS721, and DYS605 labeled by TAMRA; and DYS719, DYS726, DYS598, and DYS722 labeled by ROX). The system was extensively tested for sensitivity, male specificity, species specificity, mixture, population genetics, and mutation rates following the Scientific Working Group on DNA Analysis Methods (SWGDAM) guidelines. The genetic data were obtained from eight populations with a total of 1260 individuals. Our results showed that all the 17 Y-STRs are human- and male-specific and include only one copy of the Y-chromosome. The 17 Y-STR system detects 143 alleles and has a high discrimination power (0.996031746). Mutation rates were different among the 17 Y-STRs, ranging from 0.30 to 3.03%. In conclusion, our study provides a robust, sensitive, and cost-effective genotyping method for human identification, which will be beneficial for narrowing the search scope when applied to genealogy searching with the Y-STR DNA databank.
Highlights
With the rapid development of DNA analysis technology, STR genotyping methods consisting of multiplex PCR with fluorescently labeled primers and capillary electrophoresis have been conventionally employed in the field of forensic medicine for individual identification and paternity testing(BAI et al 2019; FAN et al 2019).The Y chromosome acts as a unique tool for forensic investigations since it is inherited through the patrilineal line in a relatively conserved manner(LIU et al 2018a; TAO et al 2019)
More Y-chromosomal short tandem repeat (Y-STR) loci have been added to the kits to increase the discrimination power for kinship analysis and human identification and for inferences on population history and evolution(KAYSER
The 1590 male samples were collected from 724 males (330 unrelated father-son pairs, which were confirmed by using autosomal STR analysis, and 64 unrelated males) in Taiyuan City (Shanxi Province), 162 unrelated males in Chongqing City, unrelated males in Ulanqab City (Mongolia), unrelated males in Sanmenxia City (Henan Province), unrelated males in Foshan City (Guangdong Province), 113 unrelated males in Hainan Li, 63 unrelated males in Hainan Miao and 124 unrelated males in Jingzhou
Summary
The Y chromosome acts as a unique tool for forensic investigations since it is inherited through the patrilineal line in a relatively conserved manner(LIU et al 2018a; TAO et al 2019). Unlike autosomal STR markers, for which the typing of two samples must be compared to make a personal identification, typing of Y chromosome markers from stains from a crime scene could be helpful for inferring the potential perpetrator’s origin if his familial DNA typing could be found in a DNA databank, i.e., to find a perpetrator or narrow the investigation scope by the “Sample to family”. More Y-STR loci have been added to the kits to increase the discrimination power for kinship analysis and human identification and for inferences on population history and evolution(KAYSER
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