title: Mutations at 17 STR loci in Chinese population.
abstract: Knowledge about mutation rates and the mutational process of short-tandem-repeat (STR) or microsatellite loci used in forensic analysis is crucial for the correct interpretation of resulting genetic profiles. We analysed a total of 19,754 samples from 6532 paternity testing cases at 17 STR loci which are commonly applied to forensics. The parenthood in each of these cases was highly validated (probability>99.99%). We identified 178 mutations. Locus-specific mutation rate estimates varied between 7.0 x 10(-5) and 2.2 x 10(-3), and the overall average mutation rate estimate was 8.4 x 10(-4). The observed mutational features for STRs have important consequences for forensic application such as the definition of criterions for exclusion in paternity testing and the interpretation of DNA profiles in identification analysis. In order to enrich the reference data of STRs mutations which are valuable for forensic application, we suggest the establishment of such database and ask the whole forensic community for data contribution including China.
authors.affiliation: Beijing Genomics Institute, Chinese Academy of Sciences, Beijing Airport Industrial Zone B-6, Beijing, PR China. YanJW@genomics.org.cn
authors.forename: Jiangwei
authors.initials: J
authors.lastname: Yan
authors.forename: Yacheng
authors.initials: Y
authors.lastname: Liu
authors.forename: Hui
authors.initials: H
authors.lastname: Tang
authors.forename: Qingxia
authors.initials: Q
authors.lastname: Zhang
authors.forename: Zhenyi
authors.initials: Z
authors.lastname: Huo
authors.forename: Songnian
authors.initials: S
authors.lastname: Hu
authors.forename: Jun
authors.initials: J
authors.lastname: Yu
mesh_terms: D002681:China; D016172:DNA Fingerprinting; D005006:Ethnicity / Q000235:genetics; D005828:Genetics, Population; D006801:Humans; D008297:Male; D009154:Mutation; D010334:Paternity; D016133:Polymerase Chain Reaction; D020080:Tandem Repeat Sequences