PMID: 7521321Sep 1, 1994Paper

CFTR mutations in Chilean cystic fibrosis patients

Human Genetics
J RiosN Riveros

Abstract

An analysis of five of the most common cystic fibrosis (CF) mutations worldwide (delta F-508, R-553X, G-551D, N-1303K and G-542X) was performed in 36 Chilean patients. Polymerase chain reaction (PCR) amplification of the DNA followed by allele specific restriction enzyme analysis was used for detection. The overall frequencies of the mutations in the chromosomes analyzed were 29.2% for delta F-508 and 4.2% for R-553X (n = 72). The G-542X, G-551D and N-1303 K mutations were absent in the Chilean sample. Our data suggest however that delta F-508 is not the most common CF mutation in Chilean patients. delta F-508 and R-553X account for only 33.4% of the alleles; 66.6% of them do not respond to the probes used and still remain uncharacterized.

Citations

Apr 23, 2003·Molecular Genetics and Metabolism·Carla StreitMaria Luiza Saraiva Pereira
May 10, 2002·Clinical Genetics·A VisichL Chertkoff
Jan 21, 2006·Molecular Genetics and Metabolism·Ana María Oller RamírezRaquel Dodelson de Kremer
Sep 12, 2006·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Martín M PérezGenoveva Keyeux
Nov 3, 2010·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Guillermo Lay-SonUNKNOWN Collaborative Group of the Chilean National Cystic Fibrosis Program
Aug 12, 2009·Current Opinion in Pulmonary Medicine·Hector H GutierrezDaniel V Schidlow
Jan 1, 1997·Clinical Genetics·L ChertkoffC Barreiro

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