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Mutational spectrum of cystic fibrosis patients from Córdoba province and its zone of influence: implications of molecular diagnosis in Argentina.

Abstract：

:Cystic Fibrosis (CF) is an autosomal recessive disorder affecting 1/2000-4000 newborns in Caucasian populations. This lethal disease mainly affects respiratory and digestive organs as well as fertility in man. So far, the CF prevalence and mutational spectrum have showed specificity among populations and regions, making it necessary to establish them in each one. In this study, we present the spectrum and frequency of CFTR gene mutations in CF patients from Córdoba (a province with 3.1 millions inhabitants in the middle of Argentina) and its zone of influence, to offer an accurate genetic testing. The study includes 78 families in which 98 patients fulfilled clinical criteria to CF diagnosis. The strategy for the molecular diagnosis comprised analysis of 21 common mutations, microsatellite haplotypes and the complete CFTR gene analysis using scanning techniques followed by sequencing of the abnormal migration patterns. Our first step led us to the identification of 10 mutations that represented 76% of alleles. Another four mutations (p.R1066C, c.1811 + 1.6 kbA > G, c.711 + 1G > T, and p.G85E) were found based on the microsatellite haplotype-mutation association. Finally, 14 mutations were characterized after the CFTR gene scanning, three of them are not previously described (p.G27R, c.622-2A > G, and p.W277R). In summary, we have identified 27 mutations accounting for 94.23% of CF alleles. This characteristic mutational spectrum highlights the 14 most frequent mutations (>1%) in the Córdoba region.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Ramírez AM,Ramos MD,Jiménez J,Ghio A,de Botelli MM,Rezzónico CA,Marqués I,Pereyro S,Casals T,de Kremer RD

doi

10.1016/j.ymgme.2005.12.001

subject

Has Abstract

pub_date

2006-04-01 00:00:00

pages

370-5

issue

4

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(05)00430-0

journal_volume

87

pub_type

杂志文章

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