Screening for mutations in factor VIIi gene using the single-strand conformation polymorphism
Nafa, K.; Meriane, F.; Chellali, T.; Benabadji, M.; Reghis, A.; Viemont, M.; Kaplan, J.C.; Delpech, M.
Human Mutation 5(4): 357-359
ISSN/ISBN: 1059-7794 PMID: 7627196 DOI: 10.1002/humu.1380050418
We devised a set of allele-specific probes to detect simultaneously 31 known cystic fibrosis mutations using PCR and the reverse dot blot detection format. The assay has been implemented in a clinical setting to the screening of over 750 individuals. Of these 102 Caucasians, 20 Hispanics and 1 Indian patient were affected with cystic fibrosis. The mutation detection rate in the 204 Caucasian and 40 Hispanic CF chromosomes was respectively, 88% and 85%. The availability of the probe sequences to CF screening laboratories should allow implementation of this assay in a clinical setting and comparison of its mutation typing rate among different centers.