Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns

Acta Paediatr. 2006 Jul;95(7):871-3. doi: 10.1080/08035250500516649.

Abstract

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.

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / enzymology
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acid Substitution
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA / blood
  • DNA / genetics
  • Genetic Carrier Screening
  • Humans
  • Infant, Newborn
  • Mutation
  • Polymerase Chain Reaction
  • Trypsin / blood*

Substances

  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA
  • Trypsin