A NOVEL SICKLE-CELL MUTATION OF YET ANOTHER ORIGIN IN AFRICA - THE CAMEROON TYPE

The sickle cell mutation (beta(s)) arose as at least three independent events in Africa and once in Asia, being termed the Senegal, Benin, Bantu and Indian types respectively. An investigation in Cameroon was carried out to determine whether the atypical sickle genes observed in the neighboring coun...

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Bibliographic Details
Published in:Human genetics 1992-05, Vol.89 (3), p.333-337
Main Authors: LAPOUMEROULIE, C, DUNDA, O, DUCROCQ, R, TRABUCHET, G, MONYLOBE, M, BODO, JM, CARNEVALE, P, LABIE, D, ELION, J, KRISHNAMOORTHY, R
Format: Article
Language:English
Subjects:
Anemia, Sickle Cell - genetics
Base Sequence
Biological and medical sciences
Blotting, Southern
Cameroon
Fetal Hemoglobin
Genetics & Heredity
Hematologic and hematopoietic diseases
Hemoglobin, Sickle - genetics
Humans
Life Sciences & Biomedicine
Linkage Disequilibrium
man
Medical sciences
Molecular Sequence Data
mutation
Mutation - genetics
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Recombination, Genetic - genetics
restriction fragment length polymorphism
Science & Technology
sickle cell disease
types
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Summary:The sickle cell mutation (beta(s)) arose as at least three independent events in Africa and once in Asia, being termed the Senegal, Benin, Bantu and Indian types respectively. An investigation in Cameroon was carried out to determine whether the atypical sickle genes observed in the neighboring countries are the result of recombination or the presence of a sickle cell mutation of a different genetic origin. It was conducted on 40 homozygous SS patients followed at the Blood Transfusion Center in the capital city of Yaounde. On 80 beta(s) chromosomes, 13 exhibited a novel polymorphic pattern that was observed three times in the homozygous state. This chromosome contains an (A)gamma(T) gene. The restriction fragment length polymorphism haplotype is different from all the other beta(s) chromosomes in both the 5' and 3' regions, but has previously been reported in sporadic cases. The (AT)8(T)5 sequence in the -500 region of the beta-gene is specific and different from that of the Senegal, Benin, Bantu or Indian beta(s) genes. All the carriers of this specific chromosome belong to the Eton ethnic group and originate from the Sanaga river valley. This observation strongly argues for yet another independent origin of the sickle cell mutation in Africa, here referred to as the "Cameroon type". The Benin haplotype and a Benin/Bantu recombinant haplotype have been observed in the other studied populations: Ewondo, Bamileke, Bassa, Yambassa and Boulou.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00220553