Hum Genet. 1991 Sep;87(5):597-601.

Nucleotide sequence evidence of the unicentric origin of the beta C mutation in Africa.

Trabuchet G, Elion J, Dunda O, Lapouméroulie C, Ducrocq R, Nadifi S, Zohoun I, Chaventre A, Carnevale P, Nagel RL, et al.

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Centre de Génétique Moléculaire et Cellulaire, CNRS UMR 106, Université Claude Bernard Lyon I, Villeurbanne, France.

Abstract

The origin of the beta C mutation was studied by characterizing nucleotide sequence polymorphisms on beta C chromosomes of patients from various African countries. In the majority of cases, the beta C mutation was found in linkage disequilibrium with a single chromosomal structure as defined by classical RFLP haplotypes, intergenic nucleotide sequence polymorphisms immediately upstream of the beta-globin gene, and intragenic beta-globin gene polymorphisms (frameworks). In addition, three atypical variant chromosomes carrying the beta C mutation were observed, and are most probably explained either by a meiotic recombination (two cases) or by one nucleotide substitution occurring in an unstable array of tandemly repeated sequences (one case). These data demonstrate the unicentric origin of the beta C mutation in central West Africa, with subsequent mutational modification in a small number of instances. The data also supports gene flow of the beta C chromosome from subsaharan Africa to North Africa.

PMID:: 1680789; [PubMed - indexed for MEDLINE]

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