title: [Sequence analysis of DYS522 and DYS527 loci and their genetic polymorphism among Guangdong Han population].
abstract: Analyzed the sequence characteristics and the genetic polymorphism of two new Y-STR loci: DYS522 and DYS527, in 151 unrelated Han males in the Guangdong Province. The results show that the DYS522 locus consists of repeats of a core sequence (GATA), with the number of repeats ranging between 9 and 13. The DYS527 locus contains two copies of a sequence motif. This motif has the following modular structure: (GGAA)3...(GGAA)2...(GGAA)2...(GGAA)3...(GGAA)4...(GGAA)3...(GAAA)m(GGAA)n, where the value of (m + n) ranges between 18 and 26 among different individuals. A rare copy with 15.3 (m+n) repeats was found. Altogether, 63 different haplotypes of these two loci were identified. Of these, 29 occurred only once, with a frequency of 0.0066, and the most common haplotype occurred at a frequency of 0.0728. This system has a haplotype diversity (HD) of 0.9780, and a discriminating power (DP) of 0.9715. The analysis of 38 father/son pairs has detected no mutation event at the DYS522 and DYS527 loci within any pair. It is found that these two loci are specific to the human species. These results indicate the DYS522/DYS527 loci to be highly polymorphic and useful genetic markers in forensic science and human evolution studies.
authors.affiliation: Department of Forensic Medicine, Zhongshan Medical College, Sun Yat-sen University, Guangzhou 510080, China. huangym369@xxmc.edu.cn
authors.forename: Yan-Mei
authors.initials: YM
authors.lastname: Huang
authors.forename: Ying-Jie
authors.initials: YJ
authors.lastname: Qi
authors.forename: Ji-Qing
authors.initials: JQ
authors.lastname: Xu
authors.forename: Yun-Liang
authors.initials: YL
authors.lastname: Zhu
authors.forename: Xin-Yao
authors.initials: XY
authors.lastname: Wu
mesh_terms: D000483:Alleles; D000818:Animals; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D005006:Ethnicity / Q000235:genetics*; D019143:Evolution, Molecular; D053803:Forensic Genetics; D005787:Gene Frequency; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA; D013045:Species Specificity