Identification of carriers by screening for delta F508 deletion in a multi-generation cystic fibrosis family

Samples from 30 members of a french cystic fibrosis (CF) family had to be typed with probes for restriction fragment length polymorphisms (RFLPs) known to be linked to the CF gene, to fulfill the expectations of twenty-two low-risk relatives who were asking for carrier testing. Classical linkage-disequilibrium data between KM-19 and XV-2c polymorphisms and the CF locus were not informative enough for some individuals, and other RFLPs had to be analyzed to determine which chromosomes carried the deficient gene in the family. We report the retrospective screening for delta F508 mutation in this extended family to illustrate the drastic improvements that the direct detection of the major mutation responsible for CF has on genetic counselling of relatives of patients with cystic fibrosis.