title: Mutational analysis of 33 autosomal short tandem repeat (STR) loci in southwest Chinese Han population based on trio parentage testing.
abstract: Mutation rates and 95% CI of 33 short tandem repeat (STR) loci (D1S2142, D2S1338, D2S441, D3S1358, D3S1754, D5S818, D6S1043, D7S3048, D7S820, D8S1132, D8S1179, D10S1248, D11S2368, D12S391, D13S1492, D13S317, D13S325, D14S306, D15S659, D16S539, D18S1364, D18S51, D19S433, D20S161, D21S11, D22GATA198B05, CSF1PO, FGA, Penta D, Penta E, TH01, TPOX, and vWA) were investigated through more than 424,000 parent-child meiotic transfers obtained from 10636 trios parentage testing cases in southwest Chinese Han population. Overall, 297, including 292 single-step, 4 double-step and 1 triple-step mutation events were observed. The average mutation rate was 0.70×10(-3). Most of the locus-specific mutation rates (varied from 0.20×10(-3) to 1.96×10(-3)) were lower than the other datasets (p<0.05). Mutations of 7 loci are reported for the first time. Mutation rates varied with population from different ethnicities and geographical regions. There was no significant difference between mutation expansion and contraction (∼1.04:1). Paternal origin mutations occurred more frequently than maternal origin ones (∼5.02:1). In addition, mutation rates indicated positive correlation with the expected heterozygosity (He) and geometric mean of longest run of perfect repeats (LRPR), respectively. Short alleles showed a trend toward mutation gain while long alleles trended toward mutation loss. A credible forensic dataset for locus-specific mutation rates of 33 loci has been established based upon strict inclusion criteria of large-sized parents/child-trio cases.
authors.affiliation: Department of Forensic Genetics, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, PR China; Department of Forensic Medicine, North Sichuan Medical College, Nanchong 637000, PR China.
authors.forename: Bo
authors.initials: B
authors.lastname: Jin
authors.affiliation: Department of Forensic Genetics, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, PR China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Su
authors.affiliation: Department of Forensic Genetics, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, PR China.
authors.forename: Haibo
authors.initials: H
authors.lastname: Luo
authors.affiliation: Department of Forensic Genetics, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, PR China.
authors.forename: Yingbi
authors.initials: Y
authors.lastname: Li
authors.affiliation: Department of Forensic Genetics, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, PR China.
authors.forename: Jin
authors.initials: J
authors.lastname: Wu
authors.affiliation: Department of Forensic Genetics, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, PR China.
authors.forename: Jing
authors.initials: J
authors.lastname: Yan
authors.affiliation: Department of Forensic Genetics, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, PR China.
authors.forename: Yiping
authors.initials: Y
authors.lastname: Hou
authors.affiliation: Department of Forensic Genetics, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, PR China. Electronic address: liangweibo@gmail.com.
authors.forename: Weibo
authors.initials: W
authors.lastname: Liang
authors.affiliation: Department of Forensic Genetics, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, PR China. Electronic address: zhanglin@scu.edu.cn.
authors.forename: Lin
authors.initials: L
authors.lastname: Zhang
mesh_terms: D002681:China; D016172:DNA Fingerprinting; D005006:Ethnicity / Q000235:genetics*; D056426:Genetic Loci; D005828:Genetics, Population; D006801:Humans; D018895:Microsatellite Repeats; D009154:Mutation; D010290:Parents; D016133:Polymerase Chain Reaction
keywords: Mutations; Population genetics; Short tandem repeats (STRs); Southwest Chinese Han