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Origin and spread of beta-globin gene mutations in India, Africa, and Mediterranea: analysis of the 5' flanking and intragenic sequences of beta S and beta C genes.

Human biology - 1 Jun 1991

Trabuchet G, Elion J, Baudot G, Pagnier J, Bouhass R, Nigon V M, Labie D, Krishnamoorthy R

Abstract excerpt

Nucleotide polymorphisms of both the 5' flanking and intragenic regions of the human beta-globin gene were investigated by directly sequencing genomic DNA after amplification by the polymerase chain reaction in 47 subjects homozygous for the beta S or the beta C mutation. The sickle-cell mutation was found in the context of five different haplotypes defined by eight nucleotide substitutions and various structures...

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PMID: 1676014

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