Molecular and Genetic Medicine

Fernando Augusto de Lima Marson

Publications

• Research Article
  The IFRD1 (57460C>T Polymorphism) Gene: A Negative Report in Cystic Fibrosis Clinical Severity
  Author(s): Fernando Augusto de Lima Marson, Aline Roberta Bariani Marcelino, Luciana Montes Rezende, Antônio Fernando Ribeiro, José Dirceu Ribeiro and Carmen Sílvia BertuzzoFernando Augusto de Lima Marson, Aline Roberta Bariani Marcelino, Luciana Montes Rezende, Antônio Fernando Ribeiro, José Dirceu Ribeiro and Carmen Sílvia Bertuzzo
  
  Cystic fibrosis (CF) is an autosomal recessive disease caused by more than 1,900 mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. In CF, one intriguing aspect is that patients, with same CFTR mutation, can have high clinical variability. Thus, the CFTR genotype does not seem to be the only determining factor in the clinical severity modulation. Therefore, the modifier genes and the environment must be considered. The IFRD1 (Interferon-related developmental regulator 1) gene, acts on the immune system and in the recruitment of immune cells, and consequently could be a modulator. In our data we included 88 CF patients, diagnosed by CFTR mutation screening and positive sweat test. The 57460C>T polymorphism screening in the IFRD1 gene was made by polymerase chain reaction associated to enzymatic digestion. A genotypic comparison was performed with 23 CF.. Read More»
  DOI: 10.4172/1747-0862.1000058

  Abstract PDF