ACTIVE CASCADE TESTING FOR CARRIERS OF CYSTIC-FIBROSIS GENE

Citation
M. Super et al., ACTIVE CASCADE TESTING FOR CARRIERS OF CYSTIC-FIBROSIS GENE, BMJ. British medical journal, 308(6942), 1994, pp. 1462-1467
Citations number
25
Categorie Soggetti
Medicine, General & Internal
ISSN journal
09598138
Volume
308
Issue
6942
Year of publication
1994
Pages
1462 - 1467
Database
ISI
SICI code
0959-8138(1994)308:6942<1462:ACTFCO>2.0.ZU;2-#
Abstract
Objective-To examine the acceptability, practicability, efficiency, an d application of active screening for carriers of the cystic fibrosis gene in the extended families of those in whom the disease is present (cascade screening). Design-Paediatricians and physicians provide deta ils of their affected patients, pedigrees are drawn up, and relatives offered tests after initial contact by the affected nuclear families. Affected patients are genotyped in a laboratory with a special interes t in the genetics of cystic fibrosis. Setting-North Western health reg ion. Subjects-Relatives and partners of 607 people with cystic fibrosi s.