Molecular Analysis of 23 Exons of the CFTR Gene in Brazilian Patients Leads to the Finding of Rare Cystic Fibrosis Mutations

Document Type

Article

Authors

Giselda M. K. Cabello, Oswaldo Cruz Institute, Rio de JaneiroFollow
Pedro H. Cabello, Oswaldo Cruz Institute, Rio de Janeiro
Koko Otsuki, Oswaldo Cruz Institute, Rio de Janeiro
Maria Emilia Gombarovits, Oswaldo Cruz Institute, Rio de Janeiro

Abstract

To define mutations present in 23 exons and flanking intronic sequences of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 95 patients from Rio de Janeiro, Brazil, we carried out single- strand conformation polymorphism analysis and automated direct sequencing. Mutation detection was achieved in 45% of the alleles presented, and complete genotyping (two mutated alleles) was accomplished in 34.7% of the patients. Twenty patients (21.1%) were found to carry only one mutation, whereas mutated alleles could not be observed in 42 patients (44.2%). Eleven mutations were found, of which four were characterized as rare mutations: P205S (1.05%), Y1092X (0.53%), S549R (0.53%), and S4X (0.53%). The DF508 mutation in this population sample showed a frequency of 28.42%. The low number of individuals (10 of 95; 10.5%) with compound heterozygous (DF508/non-DF508) genotypes could indicate the presence of another severe mutation leading to the premature death of these individuals. In 4 of the aforementioned 10 individuals with compound heterozygous genotypes, the D-7-2-1-2 (XV2c-KM19-IVS6a-TUB9-M470-T854) haplotype was defined.

Recommended Citation

Cabello, Giselda M. K.; Cabello, Pedro H.; Otsuki, Koko; and Gombarovits, Maria Emilia (2005) "Molecular Analysis of 23 Exons of the CFTR Gene in Brazilian Patients Leads to the Finding of Rare Cystic Fibrosis Mutations," Human Biology: Vol. 77: Iss. 1, Article 10.
Available at: https://digitalcommons.wayne.edu/humbiol/vol77/iss1/10