RFLP Haplotypes of beta-Globin Gene Complex of beta-Thalassemic Chromosomes in Koreans
Journal of Korean Medical Science
;
: 475-478, 2002.
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Polimorfismo Genético
/
Cromosomas Humanos Par 11
/
Haplotipos
/
Polimorfismo de Longitud del Fragmento de Restricción
/
Globinas
/
China
/
Familia de Multigenes
/
Talasemia beta
/
Corea (Geográfico)
Tipo de estudio:
Estudio pronóstico
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Journal of Korean Medical Science
Año:
2002
Tipo del documento:
Artículo
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