Chillón M, Casals T, Giménez F J, Badía H, Morral N, Bosch A, Nunes V, Estivill X
Departament de Genètica Molecular, Fundació d'Investigació Santa Creu i Sant Pau, Barcelona.
Med Clin (Barc). 1990 Mar 31;94(12):444-7.
The development of polymerase chain reaction (PCR) which allows the specific amplification of DNA sequences has improved considerably the genetic analysis of hereditary diseases. We present here the application of this new technique to the genetic analysis of cystic fibrosis (CF), the most frequent severe genetic disease in caucasians. We have amplified four sequences containing polymorphisms linked to the CF gene (CS.7, KM.19, MP6d-9 and J3.11), and analysed the amplified products with restriction enzymes. Complete concordance was found with classical Southern methods, allowing the application of PCR to routine CF family studies.