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

Author:

Hao Shicheng12,Chen Jinghan1,He Hang1,Yuan Li12

Affiliation:

1. Key Laboratory of Evidence Science, Ministry of Education, China University of Political Science and Law, Beijing, China

2. Shanghai Key Lab of Forensic Medicine, Key Lab of Forensic Science, Ministry of Justice, Academy of Forensic Science, Shanghai, China

Abstract

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.

Publisher

Medknow

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