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- W2113756437 abstract "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 <<hot-spot>> 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." @default.
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- W2113756437 date "2000-01-01" @default.
- W2113756437 modified "2023-10-16" @default.
- W2113756437 title "Diverse Genetic Mechanisms Operate to Generate Atypical β<sup>s</sup>Haplotypes in the Population of Guadeloupe" @default.
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- W2113756437 doi "https://doi.org/10.3109/03630260009003426" @default.
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