title: Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.
abstract: BACKGROUND
  Cystic fibrosis is the most common autosomal recessive genetic disease in the Caucasian population. Extending knowledge about the molecular pathology on the one hand allows better delineation of the mutations in the CFTR gene and the other to dramatically increase the predictive power of molecular testing.
  
  
  METHODS
  This study reports the results of a molecular screening of cystic fibrosis using DNA samples of patients enrolled from January 2009 to December 2013. Patients were referred to our laboratory for cystic fibrosis screening for infertile couples. In addition, we identified the gene mutations present in 76 patients affected by cystic fibrosis in the pediatric population of Basilicata.
  
  
  RESULTS
  In the 964 infertile couples examined, 132 subjects (69 women and 63 men) resulted heterozygous for one of the CFTR mutations, with a recurrence of carriers of 6.85%. The recurrence of carriers in infertile couples is significantly higher from the hypothetical value of the general population (4%).
  
  
  CONCLUSIONS
  This study shows that in the Basilicata region of Italy the CFTR phenotype is caused by a small number of mutations. Our aim is to develop a kit able to detect not less than 96% of CTFR gene mutations so that the relative risk for screened couples is superimposable with respect to the general population.
authors.affiliation: Unit of Cytogenetics and Molecular Genetics, 'Maddonna delle Grazie Hospital', street Cattedra Ambulante, 75100 Matera, Italy. domenicodelledera68@gmail.com.
authors.forename: Domenico
authors.initials: D
authors.lastname: Dell'Edera
authors.forename: Michele
authors.initials: M
authors.lastname: Benedetto
authors.forename: Gemma
authors.initials: G
authors.lastname: Gadaleta
authors.forename: Domenico
authors.initials: D
authors.lastname: Carone
authors.forename: Donatello
authors.initials: D
authors.lastname: Salvatore
authors.forename: Antonella
authors.initials: A
authors.lastname: Angione
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Gallo
authors.forename: Michele
authors.initials: M
authors.lastname: Milo
authors.forename: Maria Laura
authors.initials: ML
authors.lastname: Pisaturo
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Di Pierro
authors.forename: Eleonora
authors.initials: E
authors.lastname: Mazzone
authors.forename: Annunziata Anna
authors.initials: AA
authors.lastname: Epifania
mesh_terms: D000328:Adult; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007246:Infertility / Q000235:genetics*; D007558:Italy; D008297:Male; D009154:Mutation; D016742:Preconception Care
chemical_list: D005819:Genetic Markers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator