Article thumbnail

RFLP haplotypes of beta-globin gene complex of beta-thalassemic chromosomes in Koreans.

By Young-Joon Lee, Sung Sup Park, Ji Yeon Kim and Han-Ik Cho

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

Topics: Research Article
Publisher: Korean Academy of Medical Sciences
OAI identifier: oai:pubmedcentral.nih.gov:3054905
Provided by: PubMed Central

To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.

Suggested articles

Citations

  1. (1980). Evolution of the hemoglobin S and C genes in world populations. Science
  2. (1982). Linkage of -thalassaemia mutations and -globin gene polymorphisms with DNA polymorphisms in human -globin gene cluster. Nature
  3. (1982). Nonrandom association of polymorphic restriction sites in the -globin gene cluster.
  4. (1991). Origin and spread of -globin gene mutations in India, Africa, and Mediterranea: Analysis of the 5′ flanking and intragenic sequences of S and C genes. Hum Biol
  5. (1980). Polymorphism of DNA sequence in the -globin gene region: Application to prenatal diagnosis of 0 thalassemia in Sardinia.