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MOLECULAR ANALYSIS OF 23 EXONS OF THE CFTR GENE IN BRAZILIAN PATIENTS LEADS TO THE FINDING OF RARE CYSTIC FIBROSIS MUTATIONS
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Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Genética. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil
Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Genética. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil
Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Genética. Laborato´rio de Genética Molecular de Microrganismos. Rio de Janeiro, RJ, Brasil
Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Medicina Tropical. Rio de Janeiro, RJ, Brasil
Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro, RJ, Brasil
Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Genética. Laborato´rio de Genética Molecular de Microrganismos. Rio de Janeiro, RJ, Brasil
Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Genética. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil
Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Genética. Laborato´rio de Genética Molecular de Microrganismos. Rio de Janeiro, RJ, Brasil
Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Medicina Tropical. Rio de Janeiro, RJ, Brasil
Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro, RJ, Brasil
Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Genética. Laborato´rio de Genética Molecular de Microrganismos. Rio de Janeiro, RJ, Brasil
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.
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