CASCADE TESTING FOR CARRIER STATUS IN CYSTIC-FIBROSIS IN A LARGE FAMILY

Citation
G. Turner et al., CASCADE TESTING FOR CARRIER STATUS IN CYSTIC-FIBROSIS IN A LARGE FAMILY, Medical journal of Australia, 159(3), 1993, pp. 163-165
Citations number
1
Categorie Soggetti
Medicine, General & Internal
ISSN journal
0025729X
Volume
159
Issue
3
Year of publication
1993
Pages
163 - 165
Database
ISI
SICI code
0025-729X(1993)159:3<163:CTFCSI>2.0.ZU;2-I
Abstract
The offer to determine carrier status for cystic fibrosis (CF) was mad e to the 230 descendants of a couple who were presumed to carry the DE LTAF508 mutation. ''Cascade testing'' was employed, in which the mutat ion is followed from the oldest generation down. Compliance was over 7 5% and family members were relieved of the anxiety engendered by uncer tainty. In one couple considering having a family, both partners were found to be carriers.