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Rivista di Biologia Molecolare e Biotecnologie
Indexed/Abstracted in: EMBASE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 0,246
GENETIC TESTING - PART II
Minerva Biotecnologica 2000 June;12(2):83-89
Cystic fibrosis as a model for the carrier screening of hereditary genetic diseases
Picci L., Cameran M., Zacchello F.
Molecular Diagnosis and Research Unit, Department of Pediatrics University of Padova, Italy
Cystic Fibrosis (CF) is the most common autosomic recessive disorder in the caucasians with a frequency of 1:2500-3000 healthy newborns and a carrier frequency of 1:25-1.30. The disorder is caused by more than 900 mutations of the Cystic Fibrosis Transmembrane regulator mapping on the chromosome 7 at q31. The progress of molecular biology techniques has allowed the development of rapid, reliable and cost effective tests for the identification of multiple mutations suggesting that pilot studies for the early identification of patients and for the detection of healthy carriers might be proposed. In this paper, we present the results of a pilot study for the identification of healthy carriers by the analysis of 15 mutations and review the most important aspects regarding the application of CF genetic testing in the general population.