Abstract

Germline mutations of 24 short tandem repeat (STR) loci (TPOX, D3S1358, FGA, D5S818, CSF1PO, D7S820, D8S1179, TH01, vWA, D13S317, Penta E, D16S539, D18S51, Penta D, D21S11, D2S1772, D6S1043, D7S3048, D8S1132, D11S2368, D12S391, D13S325, D18S1364, and GATA198B05) were studied for 6,441 parent-child meioses taken from the paternity testing cases in Chinese Han population. In total, 195 mutations were identified at 22 of the 24 loci. Among them, 189 (96.92%) mutations were one step, five mutations (2.56%) were two step, and one mutation (0.51%) was three step. No mutation was found at the TH01 and TPOX loci. The overall mutation rate estimated was 0.0013 (95% CI 0.0011-0.0015), and the locus-specific mutation rate estimated ranged from 0 to 0.0034. There was a bias in the STR mutations that repeat gains were more common than losses (∼1.7:1). Mutation events in the male germline were more frequent than in the female germline (∼4.3:1). Furthermore, loci with a larger heterozygosity tended to have a higher mutation rate. Mutation in short alleles was biased towards expansion, whereas mutation in long alleles favored contraction. The long alleles have a higher allelic mutational probability than short alleles.

Links

Publisher Full Text

Authors

Lu D, Liu Q, Wu W, Zhao H

Institution

Faculty of Forensic Medicine, Zhongshan Medical School, Sun Yat-sen University, 74# Zhongshan Road II, Guangzhou, 510089, People's Republic of China. lvdejian@mail.sysu.edu.cn

Source

International journal of legal medicine 126:2 2012 Mar pg 331-5

MeSH

Adult
Asian Continental Ancestry Group
Blood Stains
Ethnic Groups
Female
Forensic Genetics
Genetics, Population
Germ-Line Mutation
Humans
Male
Microsatellite Repeats
Paternity

Pub Type(s)

Journal Article

Language

eng

PubMed ID

22005758