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Identification of the 5T‐12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns
Author(s) -
Padoan Rita,
Corbetta Carlo,
Bassotti Alessandra,
Seia Manuela
Publication year - 2006
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2006.tb02358.x
Subject(s) - cystic fibrosis transmembrane conductance regulator , cystic fibrosis , allele , medicine , regulator , haplotype , sweat , gene , genetics , transmembrane protein , genotype , mutation , phenotype , biology , receptor
In order to increase knowledge of the pathogenic effect of the 5T‐12TG allele of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, we evaluated its presence in 24 hypertrypsinaemic newborns with borderline sweat tests. Among 20 CFTR‐identified alterations, the 5T‐12TG haplotype was the second most frequent mutation (14.6%) over F508del. Conclusion: Our study suggests the need for searching for this allele in hypertrypsinaemic infants with inconclusive sweat tests.