CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent.
BACKGROUND
Cystic Fibrosis (CF) is the most prevalent Mendelian disorder in European populations. Despite the fact that many Latin American countries have a predominant population of European-descent, CF has remained an unknown entity until recently. Argentina and Brazil have detected the first patients around three decades ago, but in most countries this disease has remained poorly documented. Recently, other countries started publishing their results.


METHODS
We present a compilation and statistical analysis of the data obtained in 10 countries (Argentina, Brazil, Chile, Colombia, Costa Rica, Cuba, Ecuador, Mexico, Uruguay and Venezuela), with a total of 4354 unrelated CF chromosomes studied.


RESULTS
The results show a wide distribution of 89 different mutations, with a maximum coverage of 62.8% of CF chromosomes/alleles in the patient's sample. Most of these mutations are frequent in Spain, Italy, and Portugal, consistent with the origin of the European settlers. A few African mutations are also present in those countries which were part of the slave trade. New mutations were also found, possibly originating in America.


CONCLUSIONS
The profile of mutations in the CFTR gene, which reflects the heterogeneity of its inhabitants, shows the complexity of the molecular diagnosis of CF mutations in most of the Latin American countries.
Pérez
Martín M
MM
Centro Nacional de Genética Médica, ANLIS-Dr. Carlos G. Malbrán, Avenue Las Heras 2670, 4 Piso, 1425 Buenos Aires, Argentina.
Luna
María Cecilia
MC
Pivetta
Omar H
OH
Keyeux
Genoveva
G
D000349:Africa / Q000208:ethnology; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000208:ethnology; D007843:Latin America / Q000453:epidemiology; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D011174:Portugal / Q000208:ethnology; D013030:Spain / Q000208:ethnology
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator