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Molecular and clinical analyses of cystic fibrosis in the South of Spain
Author(s) -
Borrego Salud,
Casals Teresa,
Dapena Javier,
Fernández Esther,
Giménez Javier,
Cabeza Juan C.,
Sánchez Javier,
Antiñolo Guillermo
Publication year - 1994
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1994.tb04161.x
Subject(s) - genotype , haplotype , taqi , biology , compound heterozygosity , cystic fibrosis , genetics , pancreatic disease , mutation , heterozygote advantage , allele , pseudomonas aeruginosa , medicine , gene , restriction fragment length polymorphism , pancreas , endocrinology , bacteria
We report molecular and clinical analyses in 71 unrelated patients with cystic fibrosis (CF) from Andalusia (South of Spain). Direct mutation analysis of six mutations of the CFTR gene (ΔF508, G542X, R1162X, N1303K, W1182X and 1949del84) was performed. The proportion of CF chromosomes with the above‐mentioned mutations was 58.5%. Haplotype analysis was performed with the marker/enzyme pairs XV2C/ TaqI and KM19/ PstI . A particular haplotype has been found associated with each of the studied mutations, while the pooled data for the unknown mutations are not associated with any particular haplotype. This lack of association indicates that there will not be a single predominant mutation amongst the other CF chromosomes. To assess the relationship between genotype and phenotype in these patients, we correlated the pancreatic status and the occurrence of chronic Pseudomona aeruginosa infection with the observed genotype. Pancreatic insufficiency was present in all patients in whom the analyzed mutations were found to be homozygous or compound heterozygous. We also found a higher rate of Pseudomonas colonization in the group of patients in whom the genotype was homozygous or compound heterozygous for the analysed mutations when compared with the group of patients with a different genotype, but the difference was not statistically significant.