Cystic Fibrosis Gene Variability in Two Southern Brazilian Amerindian Populations: Analysis of the ΔF508 Mutation and the KM19 and XV2C Haplotypes

Document Type

Article

Authors

S. Raskin, Departamento de Genética, Setor de Ciências Biológicas, Universidade Federal do Paraná, Curitiba, Paraná, Brazil., Division of Genetics, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN., Programa de Pós-Graduação em Ciências da Saúde, Pontifícia Universidade Católica do Paraná, Curitiba, Paraná, Brazil.
M. L. Petzl-Erler, Departamento de Genética, Setor de Ciências Biológicas, Universidade Federal do Paraná, Curitiba, Paraná, Brazil.
J. A. Phillips III., Division of Genetics, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN.
L. Pereira-Ferrari, Departamento de Genética, Setor de Ciências Biológicas, Universidade Federal do Paraná, Curitiba, Paraná, Brazil.
C. M. Probst, Departamento de Genética, Setor de Ciências Biológicas, Universidade Federal do Paraná, Curitiba, Paraná, Brazil., IBMP, Laboratório de Bioinformática e Biologia Computacional, Instituto de Biologia Molecular do Paraná, Curitiba, Paraná, Brazil.
F. R. Faucz, Departamento de Genética, Setor de Ciências Biológicas, Universidade Federal do Paraná, Curitiba, Paraná, Brazil.
V. Sotomaior, Departamento de Genética, Setor de Ciências Biológicas, Universidade Federal do Paraná, Curitiba, Paraná, Brazil.
F. M. Salzano, Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
L. Cupli

Abstract

The frequencies of the ΔF508 deletion, the most common cystic fibrosis mutation in Europeans and European-derived populations, and the XV2C and KM19 restriction fragment length polymorphisms that are tightly linked to the CFTR locus vary among populations. To determine the distribution of these extragenic markers and of the ΔF508 mutation, we analyzed 326 chromosomes of individuals from two South American Indian populations, the Guarani and the Kaingang. The allele and haplotype frequencies differed greatly between the two populations as well as among Amerindians and normal European Brazilians and European Brazilian cystic fibrosis patients. The absence of the ΔF508 mutation and the B haplotype are in agreement with the hypothesis that the ΔF508 mutation occurred after the divergence of these two populations. This finding is useful for populations containing a large Amerindian component and helps us to understand the origins of the ΔF508 deletion, the most common cystic fibrosis mutation in Europeans and European-derived populations, as well as the different incidences of cystic fibrosis in continental groups.

Recommended Citation

Raskin, S.; Petzl-Erler, M. L.; Phillips, J. A. III.; Pereira-Ferrari, L.; Probst, C. M.; Faucz, F. R.; Sotomaior, V.; Salzano, F. M.; and Cupli, L. (2007) "Cystic Fibrosis Gene Variability in Two Southern Brazilian Amerindian Populations: Analysis of the ΔF508 Mutation and the KM19 and XV2C Haplotypes," Human Biology: Vol. 79: Iss. 1, Article 5.
Available at: https://digitalcommons.wayne.edu/humbiol/vol79/iss1/5