Prevalencia de seis mutações no gene CFTR em portadores de fibrose cistica da região de Campinas

AUTOR(ES)

Cyntia Arivabeni de Araujo Correia

DATA DE PUBLICAÇÃO

2005

RESUMO

Cystic Fibrosis (FC) is a genetic autossomic recessive disease with an incidence of 1/2.500 life births and a carrier frequency of 1/25 in the caucasian population. The disease is progressive and present as a clinical manifestation the respiratory chronic blockage, male infertility and deficiency to gain weight caused for the damage to the exocrine pancreas. The majority of the patients has raised electrolyte levels in the sweat. The gene responsible is located in chromosome 7, and it has 27 exons, and is called CFTR ("Cystic Fibrosis Transmembrane Conductance Regulator Gene"). Over 1.200 mutations have been described all over the gene and the mutation DF508 is the most frequent, and is characterized as a deletion of three bases pairs, which determines the loss of a phenylalanine in position 508 of protein CFTR. The basic defect is associated with the reduction of the conduction of íons Cl- through the apical membrane of epithelial cells. The CFTR forms a channel for the transport of this ion. The aim of this work was to determine the prevalence of the six more frequent mutations in patients with Cystic Fibrosis in Brazil and to establish association between the type of mutation and the clinical feature. Mutation DF508, that is the most worldwide frequent one, was found in 50% of the 140 alleles analyzed in this study. This data agree with previously description on the literature. In sequence, the other found mutations were: G542X (4,29%), R1162X (2,14%), N1303K (1,43%) and R553X (0,71%). The G551D mutation was not found. With exception of the G542X mutation, wich was found in a slower frequence than literature, and G551D mutation wich was not found in our sample, the others mutations frequencies are according to the literature data. Of the 70 analyzed individuals, eight did not present digestive manifestation. Of these none had the DF508 mutation in the two alleles. When the Shwachman score was considered, only one homozygous patient for the DF508 mutation was classified as severe disease

ASSUNTO(S)

mutação fibrose cistica

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