title: β-globin gene cluster haplotypes in ethnic minority populations of southwest China.
abstract: The genetic diversity and relationships among ethnic minority populations of southwest China were investigated using seven polymorphic restriction enzyme sites in the β-globin gene cluster. The haplotypes of 1392 chromosomes from ten ethnic populations living in southwest China were determined. Linkage equilibrium and recombination hotspot were found between the 5' sites and 3' sites of the β-globin gene cluster. 5' haplotypes 2 (+---), 6 (-++-+), 9 (-++++) and 3' haplotype FW3 (-+) were the predominant haplotypes. Notably, haplotype 9 frequency was significantly high in the southwest populations, indicating their difference with other Chinese. The interpopulation differentiation of southwest Chinese minority populations is less than those in populations of northern China and other continents. Phylogenetic analysis shows that populations sharing same ethnic origin or language clustered to each other, indicating current β-globin cluster diversity in the Chinese populations reflects their ethnic origin and linguistic affiliations to a great extent. This study characterizes β-globin gene cluster haplotypes in southwest Chinese minorities for the first time, and reveals the genetic variability and affinity of these populations using β-globin cluster haplotype frequencies. The results suggest that ethnic origin plays an important role in shaping variations of the β-globin gene cluster in the southwestern ethnic populations of China.
authors.affiliation: The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences &Peking Union Medical College, 935 Jiaoling Road, Kunming 650118, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Sun
authors.affiliation: The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences &Peking Union Medical College, 935 Jiaoling Road, Kunming 650118, China.
authors.forename: Hongxian
authors.initials: H
authors.lastname: Liu
authors.affiliation: The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences &Peking Union Medical College, 935 Jiaoling Road, Kunming 650118, China.
authors.forename: Kai
authors.initials: K
authors.lastname: Huang
authors.affiliation: The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences &Peking Union Medical College, 935 Jiaoling Road, Kunming 650118, China.
authors.forename: Keqin
authors.initials: K
authors.lastname: Lin
authors.affiliation: The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences &Peking Union Medical College, 935 Jiaoling Road, Kunming 650118, China.
authors.forename: Xiaoqin
authors.initials: X
authors.lastname: Huang
authors.affiliation: The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences &Peking Union Medical College, 935 Jiaoling Road, Kunming 650118, China.
authors.forename: Jiayou
authors.initials: J
authors.lastname: Chu
authors.affiliation: The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences &Peking Union Medical College, 935 Jiaoling Road, Kunming 650118, China.
authors.forename: Shaohui
authors.initials: S
authors.lastname: Ma
authors.affiliation: The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences &Peking Union Medical College, 935 Jiaoling Road, Kunming 650118, China.
authors.forename: Zhaoqing
authors.initials: Z
authors.lastname: Yang
mesh_terms: D044466:Asian People / Q000235:genetics*; D002681:China; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D005810:Multigene Family; D010802:Phylogeny; D011110:Polymorphism, Genetic; D055544:beta-Globins / Q000145:classification / Q000235:genetics*
chemical_list: D055544:beta-Globins