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Journals and Conferences
Cystic fibrosis (CF) is the most common severe autosomal recessive disease affecting Caucasian population. Genetic linkage studies using DNA markers have allow to map the disease to chromosome 7q31-32. Several of these markers are closely enough to the CF gene, that they can be used for prenatal diagnosis of CF with a high level of confidence. We have… (More)
Carrier detection and prenatal diagnosis of Duchenne muscular dystrophy can be, now, more accurately performed with the DNA recombinant techniques. The segregation pattern of DMD gen can be studied using the genetic variants detected at the DNA level (RFLPs) as markers. Cloned fragments within or very close to the gene (intragenic or extragenic probes) are… (More)
We have studied 70 carrier cystic fibrosis (CF) families with delta F508 mutation using the polymerase chain reaction (P.C.R.). We found that frequency of the mutation in CF chromosomes was 53%. 39% of carrier cystic fibrosis families were informative for the mutation.