Sickle gene. Its origin and diffusion from West Africa.

Mears, JG; Lachman, H.; Cabannes, R; Amegnizin, K.P.E.; Labie, Dominique; Nagel, Ronald L.

doi:10.1172/jci110294

Cited by 41 publications

(22 citation statements)

References 13 publications

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“…DNA Analysis. DNA was prepared from the subjects' leukocytes by previously described techniques (2).…”

Section: Methodsmentioning

confidence: 99%

“…Previous work by Kan and Dozy (1) and Mears et al (2), using a single restriction endonuclease site polymorphism, have established that the origin of the sickle gene in Africa involved more than one mutation and that its subsequent expansion was in response to selective pressures. The observation of Kan and Dozy (3) suggested a dual origin, but the findings of Mears et al suggested further diversity, with the possibility that the gene for sickle cell hemoglobin (Hb S) could have arisen independently in Atlantic Africa (Senegal), West Africa, and Bantu-speaking Africa (4).…”

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confidence: 99%

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Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa.

Pagnier¹,

Mears²,

Dunda-Belkhodja³

et al. 1984

Proc. Natl. Acad. Sci. U.S.A.

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Previous studies of the Hpa I cleavage site-sickle cell hemoglobin gene linkage in various African populations suggested that the sickle gene arose independently more than once. In the present study we have performed restriction endonuclease haplotype analysis for the beta-globin-like gene cluster from four separate geographic areas in Africa, all of which possess the sickle gene. In Benin (Central West Africa) and Algeria (Arab North Africa) all chromosomes carrying the sickle gene possess an identical haplotype as defined by 11 different polymorphic restriction endonuclease sites within the 60-kilobase region of the beta-globin-like gene cluster. In the Central African Republic (Bantu-speaking Africa) and in Senegal (Atlantic West Africa) a very large proportion of the sickle gene chromosomes were associated with a haplotype specific for each country. Thus, three different haplotypes are shown to be associated with the sickle gene in Africa, and each is present at a very high frequency in geographically separate regions. Since the three haplotypes differ from each other by at least three sites residing both 5' and 3' to a putative hot spot for recombination, it is most likely that the sickle gene arose at least three times on separate preexisting chromosomal haplotypes. This may have implications for a better understanding of the variable nature of the expression of sickle cell anemia, because clinically relevant sequences (for example, gamma-globin gene regulatory sequences responsive to anemia) might be linked polymorphically to these haplotypes.

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“…DNA Analysis. DNA was prepared from the subjects' leukocytes by previously described techniques (2).…”

Section: Methodsmentioning

confidence: 99%

mentioning

confidence: 99%

Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa.

Pagnier¹,

Mears²,

Dunda-Belkhodja³

et al. 1984

Proc. Natl. Acad. Sci. U.S.A.

Self Cite

355

222

View full text Add to dashboard Cite

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“…1981 Another advance in understanding sickle cell anemia was reported when Ronald Nagel and colleagues found that mutations in the β-globin gene originally arose in two separate but geographically close regions in western Africa (77). 1983…”

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confidence: 99%

Reflecting on 80 years of excellence

Savla¹

2004

Journal of Clinical Investigation

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A small group of members of the American Society for Clinical Investigation began chatting in 1916 about the possibility of launching a new biomedical research journal. By October 1924, they managed to make the idea a reality with the publication of the first issue of the Journal of Clinical Investigation. Our 80th birthday seems an appropriate time to reflect on the history of biomedical science as it has been played out on our pages

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“…Para la mayoría de las hemoglobinopatías se ha determinado el origen geográfico; es el caso de las HbS y HbC, con mutaciones en la cadena B, OS(O~GIU_V=I ) y OC(BMitLLyS), CUYO origen es africano: la HbC de Africa occidental (2). Se ha determinado a través de estudios de haplotipos del gen de O-globina, que la mutación que origina la HbS, ocurrió en forma independiente en cuatro poblacionesafricanas: Algeria (Africanorte), Bantú (Africa central), Senegal (Atlántico africano) y en Benin (centro-oesteafricano) (2)(3)(4)(5).…”

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“…Se ha determinado a través de estudios de haplotipos del gen de O-globina, que la mutación que origina la HbS, ocurrió en forma independiente en cuatro poblacionesafricanas: Algeria (Africanorte), Bantú (Africa central), Senegal (Atlántico africano) y en Benin (centro-oesteafricano) (2)(3)(4)(5). Lastalasemias a y B tienen una distribución geográfica mucho más amplia a través de Africa, Europa y Asia (3, 7).…”

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Estudio de la frecuencia de hemoglobinopatías en las islas de San Andrés y Providencia, Colombia

et al. 1995

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ResumenSe realizó un estudio destinado a determinar la frecuencia de hemoglobinopatías en las islas caribeñas de San Andrés y Providencia, en 544 individos individuos: 443 de San Andrés y 101 de Providencia. La frecuencia en San Andrés fue del 12,8% y en Providencia 20,8%; las hemoglobinopatías más frecuentes fueron: el rasgo falciforme, la hemoglobina C y la beta-talasemia. Los datos indican, que las hemoglobinopatías en esta región del país como problema de salud pública, tienen importancia y nos dan información sobre el origen geográfico de la población. SummaryIn order to determine the frequency of hemoglobinopathies in the Colombian Caribbean Islands, a population study was done in 544 persons, 443from San Andrés and 101 from Providencia with frequencies of 12.8% and 20.8% respectively. The hemoglobinic disorders more frequently found weres HBS, HBC and p-thalassemia. The results obtained showed that hemoglobinopahies in this region represent a public health problem and reveal the origin of the population.El estudio de las hemoglobinopatías tiene varios hasta complicaciones serias y la muerte, depenpuntos de interés, como son: el aspecto clínico, diendo en parte de las condiciones ambientales. yaquesonlacausadeenfermedadeshemolíticas El rasgo drepanocítico (AS) es de naturaleza y otros síndromes patológicos; genético, porque benigna; sin embargo, han sido informadas alguson marcadores de identificación de individuos y nas anormalidades clínicas con complicaciones familias; y, antropológico, porque aporta infor-vaso-oclusivas durante períodosde hipoxia, premación de comoaración étnica v de la influencia sentándose el fenómeno drepanocítico e infartos migratoria que ha sufrido una póblación determinada (1). Dentrode lasvariantes hemoglobínicas, las de mayor importancia clínica son la hemoglobina Scuandose presentaen forma homocigota y la talasemia mayor, ya sea alfa (a) o beta (8).Las manifestaciones clínicas de la anemia falciforme causada por la HbS, se presentan con un espectro muy amplio: desde crisis dolorosas ' Grupo de Genética, INS.Laboratorio Nacional de Salud Samper Mattínez, INS Grupo de Química Clínica, INS. esplénicosa altitudessuperiores de 6.500 msnm. El mantenimiento del polimoríismo para HbS a lo largo del mundo se ha asociado con la protección contra Plasmodium falciparum (2, 3), ocurriendo lo mismo con las talasemias. La hemoglobina C en estado de homocigosis presenta una patología leve comparada con la anterior, y los portadores son individuos cuyo fenotipo hematológico puede ser normal o presentar algunas características típicas.En el grupo de las talasemias, en donde existe una deficiencia parcial o total de las cadenas alfa o beta de la molécula, la patología depende del

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Sickle gene. Its origin and diffusion from West Africa.

Cited by 41 publications

References 13 publications

Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa.

Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa.

Reflecting on 80 years of excellence

Estudio de la frecuencia de hemoglobinopatías en las islas de San Andrés y Providencia, Colombia

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