GENETIC TESTING - PART II 

Minerva Biotecnologica 2000 June;12(2):83-89

Copyright © 2000 EDIZIONI MINERVA MEDICA

language: English

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.