Polymorphic markers suggest a gene flow of cftr gene from sub-saharan/arabian and mediterranean to brazilian population

dc.creatorCabello, Giselda M. K.
dc.creatorCabello, Pedro H.
dc.creatorLlerena Junior, Juan Clinton
dc.creatorFernandes, Octavio
dc.date2010-08-23T16:00:24Z
dc.date2010-08-23T16:00:24Z
dc.date2006
dc.date.accessioned2023-09-26T20:55:04Z
dc.date.available2023-09-26T20:55:04Z
dc.identifierCABELLO, Giselda M. K. et al. Polymorphic markers suggest a gene flow of cftr gene from sub-saharan/arabian and mediterranean to brazilian population. J. Heredity, Washington, v. 97, n. 4, p. 313-317, July. 2006.
dc.identifier0022-1503
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/299
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8866130
dc.descriptionThe analysis of 2 diallelic loci (M470V and T854T) and a microsatellite IVS8(T)n of the cystic fibrosis transmembrane conductance regulator (CFTR) gene has shown different haplotype distribution in Brazilian cystic fibrosis (CF) chromosomes carrying different CF mutations. The DeltaF508 mutation was in absolute linkage disequilibrium with 1-1 haplotype (M470V-T854T). Most of DeltaF508 chromosomes (84%) were found to carry the IVS8-9T. The most frequent haplotypes IVS8-7T and 2-1 (M470V-T854T) were found associated with Non-DeltaF508 mutations. Although there is a remarkable linkage disequilibrium between these markers with CFTR locus, the mutations R334W (7T-1-2 and 7T-2-1) and the 3120 + 1G --> A (7T-1-2 and 9T-1-2) are associated with two different haplotypes probably introduced in the Brazilian population by migration. These findings suggest that recombination events from the original haplotype and gene flow among different ethnic groups (sub-Saharan and Mediterranean) might have resulted in CF mutations associated with different haplotypes by independent introductions.
dc.formatapplication/pdf
dc.languageeng
dc.rightsrestricted access
dc.subjectCystic Fibrosis
dc.subjectGenetic Flow
dc.subjectGenetic Marker
dc.subjectGenetic Polymorphism
dc.subjectRegulador de Condutância Transmembrana em Fibrose Cística - genética
dc.subjectFluxo Genético
dc.subjectMarcadores Genéticos
dc.subjectPolimorfismo Genético
dc.titlePolymorphic markers suggest a gene flow of cftr gene from sub-saharan/arabian and mediterranean to brazilian population
dc.typeArticle


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