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.

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Article

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...

Topics

Africa
Alleles
Anemia, Sickle Cell
Base Sequence
Biological Evolution
Genetic Linkage
Globins
Humans
India
Mediterranean Sea
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Phylogeny

Polymerase Chain Reaction

Polymorphism, Genetic

Polymorphism, Restriction Fragment Length

Sequence Alignment

Source

Open in PubMed

Identifiers

PMID: 1676014

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1676014-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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