RFLP Haplotypes of beta-Globin Gene Complex of beta-Thalassemic Chromosomes in Koreans
Journal of Korean Medical Science
;
: 475-478, 2002.
Article
in English
| WPRIM
| ID: wpr-216839
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Polymorphism, Genetic
/
Chromosomes, Human, Pair 11
/
Haplotypes
/
Polymorphism, Restriction Fragment Length
/
Globins
/
China
/
Multigene Family
/
Beta-Thalassemia
/
Korea
Type of study:
Prognostic study
Limits:
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Journal of Korean Medical Science
Year:
2002
Type:
Article
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