Nucleotide sequence evidence of the unicentric origin of the beta super(C) mutation in Africa

The origin of the beta super(C) mutation was studied by characterizing nucleotide sequence polymorphisms on beta super(C) chromosomes of patients from various African countries. In the majority of cases, the beta super(C) mutation was found in linkage disequilibrium with a single chromosomal structu...

Full description

Saved in:
Bibliographic Details
Published in:Human genetics 1991-01, Vol.87 (5), p.597-601
Main Authors: Trabuchet, G, Elion, J, Dunda, O, Lapoumeroulie, C, Ducrocq, R, Nadifi, S, Zohoun, I, Chaventre, A, Labie, D
Format: Article
Language:English
Subjects:
gene flow
genes
restriction fragment length polymorphism
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:The origin of the beta super(C) mutation was studied by characterizing nucleotide sequence polymorphisms on beta super(C) chromosomes of patients from various African countries. In the majority of cases, the beta super(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). Three atypical variant chromosomes carrying the beta super(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).
ISSN:0340-6717