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Title: Phenotype and Genotype Correlate in Cystic Fibrosis

URL: http://www.scielo.cl/scielo.php?script=sci_abstract
&pid=S0034-98872002000500001&lng=en&nrm=iso&tlng=en

Revista Medica de Chile 2002;130(5):475-481 "Correlation between phenotype and genotype in a group of patients with cystic fibrosis"
08/30/2002 02:08:28 PM
By David Loshak

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. The investigators found a mutation in 75 percent of analysed alleles. DF508 was present in half of the cases, always with pancreatic insufficiency and worse nutritional status. Respiratory involvement was variable in both homozygous and heterozygous cases. Other severe mutations, such as W1282X and G542X, were related to clinical manifestations like those in the DF508 mutation. In 12 cases, diagnosis was made before six months of age. The clinical presentation was meconium ileus and in most cases there was a family history of the disease. Although most cases of early diagnosis also presented severe mutations, respiratory symptoms when they were assessed were milder and there was less nutritional compromise.

http://www.scielo.cl/scielo.php?script=sci_abstract
&pid=S0034-98872002000500001&lng=en&nrm=iso&tlng=en

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