Skip Navigation



Journal of Heredity Advance Access published online on July 12, 2006
Journal of Heredity, doi:10.1093/jhered/esl016
This Article
Right arrow FREE Full Text (PDF) Freely available
Right arrow All Versions of this Article:
97/4/313    most recent
esl016v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Cabello, G. M. K.
Right arrow Articles by Fernandes, O.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Cabello, G. M. K.
Right arrow Articles by Fernandes, O.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The American Genetic Association. 2006. All rights reserved. For permissions, please email: journals.permissions@oxfordjournals.org.
Received October 11, 2005
Accepted April 28, 2006

Article

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

Giselda M. K. Cabello 1 *, Pedro H. Cabello 1, Juan C. Llerena Jr 2, and Octavio Fernandes 3

1 From the Laboratório de Genética Humana, Instituto Oswaldo Cruz, FIOCRUZ, Av. Brasil, 4365 Manguinhos, 21040-900 Rio de Janeiro, Brasil
2 Centro de Genética Médica, Instituto Fernandes Figueira, FIOCRUZ, Av. Rui Barbosa 716, 22250-020 Rio de Janeiro, Brasil
3 Departamento de Medicina Tropical, Oswaldo Cruz Institute, FIOCRUZ, Av. Brasil 4365, 21040-900 Rio de Janeiro, Brasil

* To whom correspondence should be addressed.
Giselda M. K. Cabello, E-mail: gkalil{at}ioc.fiocruz.br


  Abstract

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.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?




Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.