title: Genetic polymorphisms and mutation rates of 27 Y-chromosomal STRs in a Han population from Guangdong Province, Southern China.
abstract: In this study, we collected blood samples from 1033 father-son pairs of a Han population from Guangdong Province, Southern China, of which 1007 fathers were unrelated male individuals. All together, 2040 male individuals were analyzed at 27 Y-chromosomal short tandem repeats (Y-STRs) with Yfiler(®) Plus system. A total of 1003 different haplotypes were observed among 1007 unrelated fathers, with the overall haplotype diversity (HD) 0.999992 and discrimination capacity (DC) 0.996. The gene diversity (GD) values for the 27 Y-STR loci ranged from 0.4400 at DYS438 to 0.9597 at DYS385a/b. 11 off-ladder alleles and 25 copy number variants were detected in 1007 males. Population relationships were analyzed by comparison with 19 other worldwide populations. With 27,920 allele transfers in 1033 father-son pairs, 124 mutation events occurred, of which 118 were one-step mutations and 6 were two-step mutations. Eleven father-son pairs were found to have mutations at two loci, while one pair at three loci. The estimated locus-specific mutation rates varied from 0 to 1.74×10(-2), with an average estimated mutation rate 4.4×10(-3) (95%CI: 3.7×10(-3) to 5.3×10(-3)). Mutations were most frequently observed at three rapidly mutating Y-STRs (RM Y-STRs), DYS576, DYS518 and DYS627. However, at DYS570, DYS449 and DYF387S1 loci, which were also described as RM Y-STRs, the mutation rates in Guangdong Han population were not as high as estimated in other populations.
authors.affiliation: Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, Guangdong, PR China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Forensic Medicine, Yanbian University Medical College, Yanji 133000, Jilin, PR China.
authors.forename: Yong-Ji
authors.initials: YJ
authors.lastname: Zhang
authors.affiliation: Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, Guangdong, PR China.
authors.forename: Chu-chu
authors.initials: CC
authors.lastname: Zhang
authors.affiliation: Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, Guangdong, PR China.
authors.forename: Ran
authors.initials: R
authors.lastname: Li
authors.affiliation: Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, Guangdong, PR China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, Guangdong, PR China.
authors.forename: Xue-Ling
authors.initials: XL
authors.lastname: Ou
authors.affiliation: Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, Guangdong, PR China.
authors.forename: Da-yue
authors.initials: DY
authors.lastname: Tong
authors.affiliation: Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, Guangdong, PR China. Electronic address: sunhy@mail.sysu.edu.cn.
authors.forename: Hong-Yu
authors.initials: HY
authors.lastname: Sun
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002681:China; D041322:Chromosomes, Human, Y; D056915:DNA Copy Number Variations; D005006:Ethnicity / Q000235:genetics*; D053803:Forensic Genetics / Q000379:methods; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D059645:Mutation Rate; D011110:Polymorphism, Genetic
keywords: Haplotype; Mutation; Rapidly mutating Y-STRs; Y-chromosomal short tandem repeats; Yfiler(®) Plus system