title: Contribution of M470V variant to cystic fibrosis: First study in CF and normal Tunisian population.
abstract: OBJECTIVE
  Determining the frequency of M470V polymorphism in cystic fibrosis and healthy cohort in Tunisia to establish the contribution of M470V polymorphism in cystic fibrosis variable presentation and course. Additionally, studying the origin of cystic fibrosis transmembrane conductance regulator gene in Tunisian population and its evolution among populations worldwide.
  
  
  METHODS
  The genotyping of M470V marker was realized by PCR-RFLP technique in 34 unrelated patients and 50 healthy subjects.
  
  
  RESULTS
  Statistical difference was found in the genotype and allelic distribution between CF and control groups. Exclusive association between F508del allele and M470 allele was noted.
  
  
  CONCLUSIONS
  This study has contributed to better understanding involvement of the M470V polymorphism in the CF clinical expression in the Tunisian population and has confirmed the utility of this marker in the study of the origin and evolution of the CFTR locus in the human history.
authors.affiliation: Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007 Tunis, Tunisia.
authors.forename: M
authors.initials: M
authors.lastname: Nefzi
authors.affiliation: Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007 Tunis, Tunisia.
authors.forename: S
authors.initials: S
authors.lastname: Hadj Fredj
authors.affiliation: Department of Pediatric, Rabta Hospital, Bab Saadoun Square, Tunis, Tunisia.
authors.forename: N
authors.initials: N
authors.lastname: Tebib
authors.affiliation: Department of Pediatric C, Children's Hospital, Bab Saadoun Square, Tunis, Tunisia.
authors.forename: S
authors.initials: S
authors.lastname: Barsaoui
authors.affiliation: Department of Pediatric C, Children's Hospital, Bab Saadoun Square, Tunis, Tunisia.
authors.forename: K
authors.initials: K
authors.lastname: Boussetta
authors.affiliation: Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007 Tunis, Tunisia.
authors.forename: H
authors.initials: H
authors.lastname: Siala
authors.affiliation: Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007 Tunis, Tunisia. Electronic address: taieb.messaoud@rns.tn.
authors.forename: T
authors.initials: T
authors.lastname: Messaoud
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005260:Female; D018703:Founder Effect; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D017354:Point Mutation; D014416:Tunisia / Q000453:epidemiology; D044465:White People / Q000235:genetics
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: CFTR gene; F508del mutation; Gène CFTR; Haplotype; M470V polymorphism; Mutation F508del; Polymorphisme M470V; Population tunisienne; Tunisian population