Diverse genetic mechanisms operate to generate atypical betaS haplotypes in the population of Guadeloupe

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...

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Bibliographic Details
Published inHemoglobin Vol. 24; no. 2; p. 77
Main Authors Romana, M, Kéclard, L, Froger, A, Lavocat, E, Saint-Martin, C, Berchel, C, Mérault, G
Format Journal Article
LanguageEnglish
Published England 01.05.2000
Subjects
Data Collection
Genetic Variation
Guadeloupe - epidemiology
Haplotypes - genetics
Hemoglobin, Sickle - genetics
Humans
Restriction Mapping
Guadeloupe
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Summary: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.
ISSN:0363-0269