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Titolo:
Molecular analysis of the beta-globin gene cluster in the niokholo mandenka population reveals a recent origin of the beta(S) senegal mutation
Autore:
Currat, M; Trabuchet, G; Rees, D; Perrin, P; Harding, RM; Clegg, JB; Langaney, A; Excoffier, L;
Indirizzi:
Univ Genoa, Dept Anthropol & Ecol, Genet & Biometry Lab, CH-1227 Carouge, Switzerland Univ Genoa Carouge Switzerland CH-1227 Lab, CH-1227 Carouge, Switzerland Univ Bern, Inst Zool, Computat & Mol Populat Genet Lab, Bern, Switzerland Univ Bern Bern Switzerland t & Mol Populat Genet Lab, Bern, Switzerland Univ Lyon 1, Ctr Genet Mol & Cellulaire, F-69622 Villeurbanne, France UnivLyon 1 Villeurbanne France F-69622 re, F-69622 Villeurbanne, France John Radcliffe Hosp, Weatherall Inst Mol Med, MRC, Mol Haematol Unit, Oxford, England John Radcliffe Hosp Oxford England , Mol Haematol Unit, Oxford, England
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 1, volume: 70, anno: 2002,
pagine: 207 - 223
SICI:
0002-9297(200201)70:1<207:MAOTBG>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
SICKLE-CELL-ANEMIA; EXPECTATION-MAXIMIZATION ALGORITHM; SUBDIVIDED POPULATION; DNA POLYMORPHISM; COMMON ANCESTOR; ZFY INTRON; LINKAGE-DISEQUILIBRIUM; HAPLOTYPE FREQUENCIES; PLASMODIUM-FALCIPARUM; AFRICAN POPULATIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
100
Recensione:
Indirizzi per estratti:
Indirizzo: Currat, M Univ Genoa, Dept Anthropol & Ecol, Genet & Biometry Lab, Rue Gustave Revilliod 12, CH-1227 Carouge, Switzerland Univ Genoa Rue Gustave Revilliod 12 Carouge Switzerland CH-1227
Citazione:
M. Currat et al., "Molecular analysis of the beta-globin gene cluster in the niokholo mandenka population reveals a recent origin of the beta(S) senegal mutation", AM J HU GEN, 70(1), 2002, pp. 207-223

Abstract

A large and ethnically well-defined Mandenka sample from eastern Senegal was analyzed for the polymorphism of the beta -globin gene cluster on chromosome 11. Five RFLP sites of the 5' region were investigated in 193 individuals revealing the presence of 10 different haplotypes. The frequency of thesickle-cell anemia causing mutation (beta (S))in the Mandenka estimated from this sample is 11.7%. This mutation was found strictly associated with the single Senegal haplotype. Approximately 600 bp of the upstream region ofthe beta -globin gene were sequenced for a subset of 94 chromosomes, showing the presence of four transversions, five transitions, and a composite microsatellite polymorphism. The sequence of 22 beta (S) chromosomes was alsoidentical to the previously defined Senegal haplotype, suggesting that this mutation is very recent. Monte Carlo simulations (allowing for a specificbalancing selection model, a logistic growth of the population, and variable initial frequencies of the Senegal haplotype) were used to estimate the age of the beta (S) mutation. Resulting maximum-likelihood estimates are 45-70 generations (1,350-2,100 years) for very different demographic scenarios. Smallest confidence intervals (25-690 generations) are obtained under the hypothesis that the Mandenka population is large (N-c >5,000) and stationary or that it has undergone a rapid demographic expansion to a current size of >5,000 reproducing individuals, which is quite likely in view of the great diversity found on beta (A) chromosomes.

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Documento generato il 07/04/20 alle ore 22:38:07