Most cystic fibrosis patients studied by Chilean investigators had a mutation associated with more severe respiratory, pancreatic and nutritional involvement.
Early diagnosis of the disease would improve both the prognosis and the quality of life, the investigators said. Noting that cystic fibrosis was the most common lethal autosomic disease among Caucasians, with a global incidence of 1:3000 newborns, the investigators pointed out that more than 900 mutations involving the Cystic Fibrosis Transmembrane Regulator had been described.
The ?F508 mutation was present in 60 percent of alleles studied worldwide. The investigators carried out a genetic study in 25 cystic fibrosis patients (m=14, f=9) aged 18 months-25 years. The study considered the 20 most common mutations in cystic fibrosis. It was done by polymerase chain reaction in genomic DNA of peripheral lymphocytes.
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