Cystic fibrosis in a southern Brazilian population: Characteristics of 90% of the alleles

Fábio R. Faucz, J. Gimenez, M. D. Ramos, L. Pereira-Ferrari, Xavier P. Estivill, S. Raskin, T. Casals, L. Culpi

Research output: Contribution to journalArticle

10 Citations (Scopus)


Cystic fibrosis (CF) is a genetic disease that frequently leads to death in infancy among Europeans and their descendants. The goals of the present study were to analyze the molecular aspects of CFTR gene characterizing mutations, their frequencies, and the haplotypes formed by four CFTR gene intragenic markers, IVS8-6(T)n, IVS8CA, IVS17bTA and IVS17bCA, in a southern Brazilian population of Caucasian origin. DNA samples from 56 non-related CF patients were analyzed using scanning techniques (single strand conformation polymorphism and denaturing gradient gel electrophoresis), restriction fragment length polymorphism and direct DNA sequencing to identify the mutations. Our results revealed a total of 25 different CF mutations representing nearly 90% of CF alleles, two being novel mutations. Microsatellite haplotypes were defined for CF and normal alleles. The mutational spectrum and the associated haplotypes described for the first time in this study should prove relevant for genetic counselling and CF population screening in Brazil. Moreover, our results suggest the presence of a major Mediterranean component in the contemporary Brazilian CF patient pool.

Original languageEnglish
Pages (from-to)218-223
Number of pages6
JournalClinical Genetics
Issue number3
Publication statusPublished - Sep 2007
Externally publishedYes



  • Brazilian CF population
  • CFTR gene
  • CFTR haplotypes
  • Cystic fibrosis
  • Mutation scanning

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Faucz, F. R., Gimenez, J., Ramos, M. D., Pereira-Ferrari, L., Estivill, X. P., Raskin, S., Casals, T., & Culpi, L. (2007). Cystic fibrosis in a southern Brazilian population: Characteristics of 90% of the alleles. Clinical Genetics, 72(3), 218-223.