Haplotype and genetic relationship of 27 Y-STR loci in Han population of Chaoshan area of China / 解放军医学杂志

Objective To investigate the genetic polymorphisms of 27 Y-chromosomal short tandem repeats (Y-STR) loci included in Yfiler(R) Plus kit in Han population of Chaoshan area,and explore the population genetic relationships and evaluate its application value on forensic medicine.Methods By detecting 795 unrelated Chaoshan Han males with Yfiler(R) Plus kit,haplotype frequencies and population genetics parameters of the 27 Y-STR loci were statistically analyzed and compared with available data of other populations from different races and regions for analyzing the genetic distance and clustering relation of Chaoshan Han population.Results Seven hundred and eighty-seven different haplotypes were observed in 795 unrelated male individuals,of which 779 haplotypes were unique,and 8 haplotypes occurred twice.The haplotype diversity (HD) was 0.999975 with discriminative capacity (DC) of 98.99％.The gene diversity (GD) at the 27 Y-STR loci ranged from 0.3637(DYS391) to 0.9559(DYS385a/b).Comparing with Asian reference populations,the genetic distance (Rst) between Chaoshan Han and Guangdong Han was the smallest (0.0036),while it was relatively larger between Chaoshan Han and Gansu Tibetan population (0.0935).The multi-dimensional scaling (MDS) plot based on Rst values was similar to the results of clustering analysis.Conclusion Multiplex detection of the 27 Y-STR loci reveals a highly polymorphic genetic distribution in Chaoshan Han population,which demonstrates the important significance of Yfiler(R) Plus kit for establishing a Y-STR database,studying population genetics,and for good practice in forensic medicine.

Asian Ethnic Group Classification Model Using Data Mining / 대한법의학회지

In addition to identifying genetic differences between target populations, it is also important to determine the impact of genetic differences with regard to the respective target populations. In recent years, there has been an increasing number of cases where this approach is needed, and thus various statistical methods must be considered. In this study, genetic data from populations of Southeast and Southwest Asia were collected, and several statistical approaches were evaluated on the Y-chromosome short tandem repeat data. In order to develop a more accurate and practical classification model, we applied gradient boosting and ensemble techniques. To infer between the Southeast and Southwest Asian populations, the overall performance of the classification models was better than that of the decision trees and regression models used in the past. In conclusion, this study suggests that additional statistical approaches, such as data mining techniques, could provide more useful interpretations for forensic analyses. These trials are expected to be the basis for further studies extending from target regions to the entire continent of Asia as well as the use of additional genes such as mitochondrial genes.