title: Mutation rate analysis at 19 autosomal microsatellites.
abstract: Previous studies have demonstrated that a large sample size is needed to reliably estimate population- and locus-specific microsatellite mutation rates. Therefore, we conducted a long-term collaboration study and performed a comprehensive analysis on the mutation characteristics of 19 autosomal short tandem repeat (STR) loci. The STR loci located on 15 of 22 autosomal chromosomes were analyzed in a total of 21,106 samples (11,468 parent-child meioses) in a Chinese population. This provided 217,892 allele transfers at 19 STR loci. An overall mutation rate of 1.20 × 10(-3) (95% CI, 1.06-1.36 × 10(-3) ) was observed in the populations across 18 of 19 STR loci, except for the TH01 locus with no mutation found. Most STR mutations (97.7%) were single-step mutations, and only a few mutations (2.30%) comprised two and multiple steps. Interestingly, approximately 93% of mutation events occur in the male germline. The mutation ratios increased with the paternal age at child birth (r = 0.99, p<0.05), but not maternal age. Last, with the combination analysis of the data from the southern Chinese population, we drew a picture of 19 STR mutations in China. In conclusion, the data from this study will provide useful information in parentage testing, kinship analysis, and population genetics.
authors.affiliation: Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, P. R. China.
authors.forename: Xiao-Qin
authors.initials: XQ
authors.lastname: Qian
authors.affiliation: Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, P. R. China.
authors.forename: Cai-Yong
authors.initials: CY
authors.lastname: Yin
authors.affiliation: Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, P. R. China.
authors.forename: Qiang
authors.initials: Q
authors.lastname: Ji
authors.affiliation: Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, P. R. China.
authors.forename: Kai
authors.initials: K
authors.lastname: Li
authors.affiliation: Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, P. R. China.
authors.forename: Han-Ting
authors.initials: HT
authors.lastname: Fan
authors.affiliation: Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, P. R. China.
authors.forename: Yan-Fang
authors.initials: YF
authors.lastname: Yu
authors.affiliation: Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, P. R. China.
authors.forename: Fan-Li
authors.initials: FL
authors.lastname: Bu
authors.affiliation: Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, P. R. China.
authors.forename: Ling-Li
authors.initials: LL
authors.lastname: Hu
authors.affiliation: Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, P. R. China.
authors.forename: Jian-Wen
authors.initials: JW
authors.lastname: Wang
authors.affiliation: Center of Forensic Sciences, Beijing Genomics Institute, Beijing, P. R. China.
authors.forename: Hao-Fang
authors.initials: HF
authors.lastname: Mu
authors.affiliation: Vascular Biology Center, Georgia Regents University, Augusta, GA, USA.
authors.forename: Steven
authors.initials: S
authors.lastname: Haigh
authors.affiliation: Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, P. R. China.|Vascular Biology Center, Georgia Regents University, Augusta, GA, USA.
authors.forename: Feng
authors.initials: F
authors.lastname: Chen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D056426:Genetic Loci; D005828:Genetics, Population; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D059645:Mutation Rate; D010334:Paternity; D020080:Tandem Repeat Sequences; D055815:Young Adult
keywords: Chinese; Microsatellites; Mutation rate; Parentage testing; Paternal age