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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Nucleotide sequence evidence of the unicentric origin of the β
C
mutation in Africa
Human Genetics, Volume 87, No. 5, Year 1991
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Description
The origin of the β C mutation was studied by characterizing nucleotide sequence polymorphisms on β C chromosomes of patients from various African countries. In the majority of cases, the β 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 β-globin gene, and intragenic β-globin gene polymorphisms (frameworks). In addition, three atypical variant chromosomes carrying the β 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 β C mutation in central West Africa, with subsequent mutational modification in a small number of instances. The data also supports gene flow of the β C chromosome from subsaharan Africa to North Africa. © 1991 Springer-Verlag.
Authors & Co-Authors
Trabuchet, Guy
France, Villeurbanne
Centre de Génétique et de Physiologie Moléculaire et Cellulaire
Elion, Jacques
France, Paris
Hôpital Robert-debré Ap-hp
Dunda, Olga
France, Paris
Hopital Cochin Ap-hp
Lapouméroulie, Claudine L.
France, Paris
Hopital Cochin Ap-hp
Ducrocq, Rolande
France, Paris
Hôpital Robert-debré Ap-hp
Sellama, Nadifi
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Zohoun, Isidore Yoro
Nigeria, Benin
Centre National de Transfusion Sanguine
Chaventré, André
France, Paris
Ined Institut National d' Études Démographiques
Carnevale, Pierre J.
France, Paris
Ined Institut National d' Études Démographiques
Nagel, Ronald L.
United States, New York
Albert Einstein College of Medicine of Yeshiva University
Krishnamoorthy, Rajagopal
France, Paris
Hôpital Robert-debré Ap-hp
Labié, Dominique
France, Paris
Hopital Cochin Ap-hp
Statistics
Citations: 12
Authors: 12
Affiliations: 7
Identifiers
Doi:
10.1007/BF00209020
ISSN:
03406717
e-ISSN:
14321203
Research Areas
Cancer
Genetics And Genomics
Study Locations
Multi-countries