A low prevalence of cystic fibrosis in Uruguayans of mainly European descent

• Published in: Genetics and molecular research 2004-06, Vol.3 (2), p.258-263
• Main Authors: Cardoso, Horacio, Crispino, Beatriz, Mimbacas, Adriana, Cardoso, Manuel Enrique
• Format: Article
• Language: English
• Subjects: Cystic Fibrosis - epidemiology; Cystic Fibrosis - ethnology; Cystic Fibrosis - genetics; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; European Continental Ancestry Group; Genotype; Humans; Mutation; Prevalence; Uruguay - epidemiology; Uruguay - ethnology
• ISSN: 1676-5680

Cystic fibrosis is the most common hereditary disease in populations of European descent, with its prevalence depending on the populations and ethnic groups studied. In contrast to Europe and North America, there is little information about this disease in Latin America. Uruguay currently has a human population of 3,000,000, with a low rate of miscegenation and no remaining isolated Amerindian groups. In the present study, we estimated the prevalence of cystic fibrosis in this country based on the detection of DeltaF508 mutation carriers in 500 unrelated individuals and on the frequency of individuals homozygous for this mutation within the affected population. The latter was calculated from the frequency of the different mutations and genotypes observed in a sample of 52 previously described patients with confirmed cystic fibrosis. A theoretical estimate of the prevalence of cystic fibrosis based on anthropological data suggested a frequency of 25 affected individuals/100,000 inhabitants. However, our data indicated that the true prevalence in the population was considerably lower (6.9 cases/100,000 inhabitants).