The occurrence of various non-delta F508 CFTR gene mutations among Hungarian cystic fibrosis patients
| Autor: | Zoltán Papp, Elaine Louie, Margit Nemeti, John P. Johnson |
|---|---|
| Rok vydání: | 1992 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Cystic Fibrosis Population Molecular Sequence Data Cystic Fibrosis Transmembrane Conductance Regulator Gene mutation Biology medicine.disease_cause Cystic fibrosis Exon Gene Frequency Prenatal Diagnosis Genetics medicine Humans education ΔF508 Gene Genetics (clinical) education.field_of_study Mutation Hungary Base Sequence Membrane Proteins Exons medicine.disease Cystic fibrosis transmembrane conductance regulator Introns biology.protein |
| Zdroj: | Human genetics. 89(2) |
| ISSN: | 0340-6717 |
| Popis: | Cystic fibrosis (CF) is an autosomal recessive disease caused by different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of the major mutation (delta F508) in the Hungarian population is 64%. To identify other common mutations in CF families from Hungary, 30 non-delta F508 CF chromosomes were analyzed for selected mutations in exon 11 (G551D, R553X, G542X), intron 4 (621 + 1G----T), intron 10 (1717-1G----A), exon 20 (W1282X), and in exon 21 (N1303K) of the CFTR gene. In 6 of the 30 non-delta F508 CF chromosomes the following mutations were detected: R553X, G542X, 1717-1G----A, W1282X, and N1303K. After analysis of the above eight mutations, 30% of CF chromosomes are as yet undefined and further analysis is planned. |
| Databáze: | OpenAIRE |
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