Mutational analysis of 33 autosomal short tandem repeat (STR) loci in southwest Chinese Han population based on trio parentage testing. (July 2016)

• Record Type: Journal Article
• Authors: Jin, Bo; Su, Qin; Luo, Haibo; Li, Yingbi; Wu, Jin; Yan, Jing; Hou, Yiping; Liang, Weibo; Zhang, Lin
• Is Part Of: Forensic science international. Volume 23(2016:Jul.)
• Page Start: 86
• Page End: 90
• Publication Date: 2016-07
• Subjects: Short tandem repeats (STRs) -- Southwest Chinese Han -- Population genetics -- Mutations; Forensic genetics -- Periodicals; Génétique légale -- Périodiques; Forensic genetics; Electronic journals; Periodicals; 614.1
• DOI: 10.1016/j.fsigen.2016.03.009
• Languages: English
• ISSNs: 1872-4973

Abstract

Highlights: A credible mutation dataset of 33 loci of southwest Chinese Han were established. Mutations of 7 loci were reported for the first time to our knowledge. Statistical difference of mutation rates between this study and others were indicated. The gain/loss, parental origin and direction of mutations were evaluated. The correlation between mutation rates and He, allele sizes etc. was investigated. 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.