Mutation and Genetic Polymorphism of 31 X-STR Loci in Northern Han Nationality
10.13471/j.cnki.j.sun.yat-sen.univ（med.sci）.2022.0401
- VernacularTitle:北方汉族31个X染色体短串联重复片段突变及遗传多态性研究
- Author:
Yan XU
1
;
Yan LIU
1
;
Shi-cheng HAO
1
;
Jin-pei ZHANG
1
;
Ge-xin LIU
1
;
Yu-ting TAO
1
;
Xian-zhong WANG
1
;
Li YUAN
1
Author Information
1. Key Laboratory of Evidence Science of Ministry of Education，China University of Political Science and Law， Beijing 100088，China
- Publication Type:Journal Article
- Keywords:
X chromosome;
short tandem repeats;
Northern Han;
genetic polymorphisms;
mutation
- From:
Journal of Sun Yat-sen University(Medical Sciences)
2022;43(4):511-521
- CountryChina
- Language:Chinese
-
Abstract:
ObjectiveTo investigate the genetic polymorphism， linkage disequilibrium and mutation rate of 31 X-STR loci in the Northern Han Chinese. MethodsA total of 209 family samples of healthy volunteers in the Northern Han Chinese were selected. All samples were detected by AGCU X19 and MicroreaderTM 19X fluorescence detection kits and the mutation rate of loci was counted. The mothers （n=207） and the fathers （n=207） in the families were selected， respectively， to form the group of unrelated male and female individuals for genetic polymorphism studies and linkage disequilibrium test. ResultsA total of 344 alleles were detected with gene frequencies ranging from 0.001 6 to 0.810 0. The locus with the most abundant polymorphism information content （PIC） was DXS10135 （PIC=0.912 4）. Discrimination power （DP） was 0.330 5-0.918 1 and 0.534 0-0.987 6 in male and female groups respectively. The cumulative discrimination power was 1-4.566 4×10-19 and 1-1.578 4×10-31 in male and female groups respectively. Mean exclusion chance （MEC） was 0.312 7-0.912 4 and 0.193 5-0.844 6 in trios and duos. The cumulative mean exclusion chance was 1-2.281 9×10-17 and 1-2.509 0×10-12 in trios and duos respectively. After analysis， one pair of loci （DXS10103-DXS10101） had obvious linkage disequilibrium. Mutations at 19 X-STR loci were observed in 414 meiotic divisions， with an average mutation rate of 0.002 3. DXS10135 had the highest mutation rate of 0.012 1. ConclusionThe obtained 31 X-STR genetic data provided basic data for forensic identification. DXS10103-DXS10101 shows linkage disequilibrium， so haplotype frequency could be counted in application. Care should be taken when using loci with high mutation， and don′t rule out some kind of kinship only because individual loci do not conform to the laws of inheritance.
