Diverse genetic mechanisms operate to generate atypical betaS haplotypes in the population of Guadeloupe.
Hemoglobin
; 24(2): 77-87, 2000 May.
Article
em En
| MEDLINE
| ID: mdl-10870878
In a survey of the chromosomal background associated with the sickle cell gene in Guadeloupe, a French Caribbean island, we identified 37 unrelated patients with sickle cell disease (27 SS, nine SC, and one S-beta-thalassemia) of 477 unrelated sickle cell patients where the beta3 gene was linked to 20 different atypical haplotypes. These atypical chromosomes account for about 5% of the overall betaS chromosomes in this population. To investigate the origin of these atypical betaS haplotypes, we performed extensive typing of betaS and betaA chromosomes. Twenty-two different 5' subhaplotypes were identified among the betaS chromosomes. Fifteen of 20 different atypical haplotypes are likely to be the product of recombination by a single crossover around the <> 5' to the beta-globin gene, or between a major betaS haplotype and one of the betaS haplotypes present in the population. The remaining cases require genetic mechanisms (gene conversions, additional substitutions in a given haplotype) other than crossovers to generate these atypical haplotypes.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Haplótipos
/
Hemoglobina Falciforme
Limite:
Humans
País/Região como assunto:
Caribe
/
Guadalupe
Idioma:
En
Revista:
Hemoglobin
Ano de publicação:
2000
Tipo de documento:
Article
País de publicação:
Reino Unido