Genotyping of the Spanish cystic fibrosis population at the delta F508 mutation site and RFLP linked loci.

Abstract excerpt

Spanish families (n = 75) with at least one affected cystic fibrosis (CF) child were typed for restriction fragment length polymorphisms (RFLPs) by the probes XV2c, KM19, and pMP6d-9. These families were also studied at the 508 mutation site by the polymerase chain reaction method. We have studied the linkage disequilibrium between these markers and the CF mutations, the probable number of independent secondary...

Topics

• Chromosome Deletion
• Cystic Fibrosis
• Genotype
• Humans
• Mutation
• Polymerase Chain Reaction
• Polymorphism, Restriction Fragment Length