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

Copyright © 2000 EDIZIONI MINERVA MEDICA

lingua: Inglese

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


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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.

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