title: RFLP haplotypes of beta-globin gene complex of beta-thalassemic chromosomes in Koreans.
abstract: Korea is in the low-prevalence area of beta-thalassemia and the Korean population has relatively homogenous racial characteristics. Recently, we identified some causative mutations of the Korean beta-thalassemia patients. In order to elucidate the genetic background of beta-thalassemia alleles in Koreans, we determined the restriction fragment length polymorphism (RFLP)-haplotype and framework (FW) in nine beta-thalassemia chromosomes of five different causative mutations by PCR-based method and family linkage study. The result that the haplotype and the framework linked to the initiation codon ATG-->AGG mutation were -+-++-+ and FW3A, respectively, in all of three families in this study suggests a common origin of this mutation at least in Koreans. A novel beta-thalassemia mutation, codons 89/90 -TG, showed discrepancy between -++--++- and FW1, which could be explained by gene conversion. A case of codons 8/9 +G frameshift mutation had +----++ and FW1. The linkage of the two beta-thalassemia mutations, codon 17 AAG-->TAG and codons 41/42 -TTCT, with specific haplotypes and frameworks common to the Koreans and the neighboring countries suggests that those mutations are influenced by the genetic flow from the south China.
authors.affiliation: Department of Clinical Pathology, Seoul National University College of Medicine, Seoul National University Hospital Clinical Research Institute, Seoul, Korea.
authors.forename: Young-Joon
authors.initials: YJ
authors.lastname: Lee
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
authors.forename: Ji Yeon
authors.initials: JY
authors.lastname: Kim
authors.forename: Han-Ik
authors.initials: HI
authors.lastname: Cho
mesh_terms: D002681:China; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D008040:Genetic Linkage; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007723:Korea / Q000453:epidemiology; D005810:Multigene Family; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D017086:beta-Thalassemia / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D005914:Globins