title: [Variation of CAG repeats in coding region of ATXN2 gene in different ethnic groups].
abstract: Toinvestigate CAG repeats variation of ATXN2 gene coding region in six ethnic groups that live in comparatively different environments, to evaluate whether these variations are under positive selection, and to find factors driving selection effects, 291 unrelated healthy individuals were collected from six ethnic groups and their STR geneotyping was performed. The frequencies of alleles and genotypes were counted and thereby Slatkin's linearized Fst values were calculated. The UPGMA tree against this gene was constructed. The MDS analysis among these groups was carried out as well. The results from the linearized Fst values indicated that there were significant evolutionary differences of the STR in ATXN2 gene between Hui and Yi groups, but not among the other 4 groups. Further analysis was performed by combining our data with published data obtained from other groups. These results indicated that there were significant differences between Japanese and other groups including Hui, Hani, Yunnan Mongolian, and Inner Mongolian. Both Hui and Mongolian from Inner Mongolia were significantly different from Han. In conclusion, the six ethnic groups had their own distribution characterizations of allelic frequencies of ATXN2 STR, and the potential cause of frequency changes in rare alleles could be the consequence of positive selection.
authors.affiliation: Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming 650118, China. fireflyxchen@imbcams.com.cn
authors.forename: Xiao-Chen
authors.initials: XC
authors.lastname: Chen
authors.forename: Hao
authors.initials: H
authors.lastname: Sun
authors.forename: Dong-Qing
authors.initials: DQ
authors.lastname: Mi
authors.forename: Xiao-Qin
authors.initials: XQ
authors.lastname: Huang
authors.forename: Ke-Qin
authors.initials: KQ
authors.lastname: Lin
authors.forename: Wen
authors.initials: W
authors.lastname: Yi
authors.forename: Liang
authors.initials: L
authors.lastname: Yu
authors.forename: Lei
authors.initials: L
authors.lastname: Shi
authors.forename: Li
authors.initials: L
authors.lastname: Shi
authors.forename: Zhao-Qing
authors.initials: ZQ
authors.lastname: Yang
authors.forename: Jia-You
authors.initials: JY
authors.lastname: Chu
mesh_terms: D000067528:Ataxins; D002681:China / Q000208:ethnology; D005006:Ethnicity / Q000235:genetics*; D006801:Humans; D018895:Microsatellite Repeats; D009419:Nerve Tissue Proteins / Q000235:genetics*; D018911:Trinucleotide Repeats
chemical_list: D000067528:Ataxins; D009419:Nerve Tissue Proteins