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Journal of Heredity Advance Access originally published online on July 12, 2006
Journal of Heredity 2006 97(4):313-317; doi:10.1093/jhered/esl016
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© The American Genetic Association. 2006. All rights reserved. For permissions, please email: journals.permissions@oxfordjournals.org.

Polymorphic Markers Suggest a Gene Flow of CFTR Gene from Sub-Saharan/Arabian and Mediterranean to Brazilian Population

Giselda MK. Cabello, Pedro H. Cabello, Juan C. Llerena, Jr, and Octavio Fernandes

From the Laboratório de Genética Humana, Instituto Oswaldo Cruz, FIOCRUZ, Av. Brasil, 4365 Manguinhos, 21040-900 Rio de Janeiro, Brasil (GMK Cabello and PH Cabello); Centro de Genética Médica, Instituto Fernandes Figueira, FIOCRUZ, Av. Rui Barbosa 716, 22250-020 Rio de Janeiro, Brasil (Llerena); and Departamento de Medicina Tropical, Oswaldo Cruz Institute, FIOCRUZ, Av. Brasil 4365, 21040-900 Rio de Janeiro, Brasil (Fernandes)

Address correspondence to G. M. K. Cabello at the address above, or e-mail: gkalil{at}ioc.fiocruz.br.

The 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 {Delta}F508 mutation was in absolute linkage disequilibrium with 1-1 haplotype (M470V-T854T). Most of {Delta}F508 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-{Delta}F508 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.


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