RFLP haplotypes of beta-globin gene complex of beta-thalassemic chromosomes in Koreans.
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.
Lee
Young-Joon
YJ
Department of Clinical Pathology, Seoul National University College of Medicine, Seoul National University Hospital Clinical Research Institute, Seoul, Korea.
Park
Sung Sup
SS
Kim
Ji Yeon
JY
Cho
Han-Ik
HI
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*
D005914:Globins