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The analysis of some CFTR gene mutations in a small group of cf patients from southern part of Romania

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Author(s): Pompilia APOSTOL | Danut CIMPONERIU | Irina RADU | Lucian GAVRILA

Journal: Analele Universitatii din Oradea, Fascicula Biologie
ISSN 1224-5119

Volume: TOM XVI;
Issue: 1;
Start page: 8;
Date: 2009;
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Keywords: Cystic fibrosis | CFTR gene | delta F508 | mutations

ABSTRACT
Cystic fibrosis is the most common hereditary disease in European descendant populations, with prevalencedepending on ethnic groups studied. In contrast to other European countries, there is little information regarding the frequency ofCFTR mutations for the Southern part of Romania. The aim of this study was to test the presence of nine CFTR mutations in CFpatients from the Southern part of Romania, using complementary analysis methods. We investigated a group of unrelated CFpatients (n=19) and, when possible, their voluntary parents (n=15). We observed that the most frequently worldwide CF mutation,delta F508, was present in 17 of our patients (89.5%) in homozygous (n=7) or heterozygous (n=10) condition and absent in 2 cases(10.5%). This mutation was also detected in ten parents, seven of them (100%) have homozygous children and three (37.5%)have heterozygous children for delta F508 mutation. None of the G542X, S549N, G551D, R553X, R560T, S1255X, W1282X andN1303K mutations have been detected in the samples from patients or parents. Our results are partially similar with those reportedin neighbouring countries where the delta F508 is the most common mutation detected and the frequency of R560T, S549N, G551D andS1255X mutations is near zero. The enlargement of this study could give a better result regarding the spectrum of CFTR mutationsin Romanian patients with CF.
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