J Korean Med Sci.  2002 Aug;17(4):475-478. 10.3346/jkms.2002.17.4.475.

RFLP Haplotypes of beta-Globin Gene Complex of beta-Thalassemic Chromosomes in Koreans

• Lee YJ
• Park SS
• Kim JY
• Cho HI

• KMID: 1109754
• DOI: http://doi.org/10.3346/jkms.2002.17.4.475

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.

Keyword

Haplotypes; Framework; beta-Thalassemia; beta-Globin gene; Korea

MeSH Terms

China
Chromosomes, Human, Pair 11/*genetics
Globins/*genetics
*Haplotypes
Humans
Korea/epidemiology
Linkage (Genetics)
Multigene Family
Mutation
Pedigree
Polymorphism, Genetic
*Polymorphism, Restriction Fragment Length
beta-Thalassemia/*epidemiology/*genetics