title: Anthropological features of the CFTR gene: Its variability in an African population.
abstract: BACKGROUND
  The CFTR gene (Cystic Fibrosis conductance Transmembrane Regulator) is the gene responsible for Cystic Fibrosis, the most common severe autosomal recessive disease in Europeans. It has been extensively explored in several European and European-derived populations, but poorly studied in the other major human groups.
  
  
  OBJECTIVE
  To characterize the variability of the CFTR gene in an African population.
  
  
  METHODS
  Using DGGE, all 27 exons (4443 bp) and 2184 bp of the flanking intronic regions of the CFTR gene were studied in a random sample of 45 Mossì from Burkina Faso (Western sub-Saharan Africa).
  
  
  RESULTS
  Sixteen variable sites were found: 13 SNPs (one in the promoter region, four non-synonymous and five synonymous in the exons and three in the introns) and three intronic STRs. Only the promoter site ( - 94 G/T), slightly polymorphic in the present survey, was not variable in different European populations. Comparison between Western Africans, Eastern Africans, Europeans and Eastern Asians showed that alleles at two intronic STRs (T(n) and (TG)(m) in intron 8), four exonic (M470V, 2694 T/G, 4002 A/G and 4521 G/A) and one intronic (875+40 A/G) SNPs have very different frequencies among at least two major human groups. Moreover, the overall degree of non-synonymous variability in Mossì is much lower than that in Europeans. A possible interpretation of this finding is proposed.
  
  
  CONCLUSIONS
  The CFTR gene has been since long hypothesized to have undergone selection in Europeans. The present study by comparing Africans and Europeans for the overall variability of the gene supports this hypothesis.
authors.affiliation: Department of Biology, University of Roma-Tor Vergata, Italy. bianca.ciminelli@uniroma2.it
authors.forename: Bianca
authors.initials: B
authors.lastname: Maria Ciminelli
authors.forename: Cristina
authors.initials: C
authors.lastname: Bombieri
authors.forename: Cinzia
authors.initials: C
authors.lastname: Ciccacci
authors.forename: Francesca
authors.initials: F
authors.lastname: Belpinati
authors.forename: Fiorenza
authors.initials: F
authors.lastname: Pompei
authors.forename: Roberta
authors.initials: R
authors.lastname: Maselli
authors.forename: Jacques
authors.initials: J
authors.lastname: Simporé
authors.forename: Pier Franco
authors.initials: PF
authors.lastname: Pignatti
authors.forename: Guido
authors.initials: G
authors.lastname: Modiano
mesh_terms: D000483:Alleles; D044383:Black People / Q000235:genetics*; D002050:Burkina Faso; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000208:ethnology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005060:Europe / Q000453:epidemiology; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D006801:Humans; D007438:Introns / Q000235:genetics; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator