title: CFTR haplotypes in northern Iranian population.
abstract: BACKGROUND
  Cystic fibrosis (CF) is a multiorganic autosomal recessive disorder, caused by mutation in cystic fibrosis transmembrane conductance regulator (CFTR). CF is highly heterogeneous in Iranian population and molecular diagnosis based on direct identification of mutations is not completely efficient. The use of polymorphic intragenic markers not only can facilitate phenotype prediction in prenatal diagnosis by gene tracking, but also can lead to the demonstration of possible associations between haplotypes and specific mutations.
  
  
  METHODS
  60 CF patients and 53 fertile normal subjects originating from North of Iran were analyzed for F508del mutation and c.1210-12T(5_9), c.1408A>G and c.744-33GATT(6_8) polymorphisms.
  
  
  RESULTS
  c.1210-12T[7] is the most prevalent allele in normal individuals and CF non-F508del patients with 87.7%and 86.7% frequencies respectively. c.1408A>G survey showed that frequency of allele G and A is nearly equal in both non-F508del CF patients and normal individuals. c.744-33GATT(6_8) study showed that 7 repeat is the most prevalent allele in normal individuals and non-F508del CF patients with 80.2% and 82.1% frequencies respectively. The [c.1408A; c.1210-12T[9]; c.744-33GATT[6]] haplotype was only associated with mutant alleles including F508del.
  
  
  CONCLUSIONS
  The allelic distribution and heterozygosity results suggest that c.1408A>G, c.1210-12T(5_9) and c.744-33GATT(6_8) can contribute to carrier detection and prenatal diagnosis of CF in Iranian families with previous history of the disease.
authors.affiliation: Cellular and Molecular Biology Research Center, Babol University of Medical Sciences, Babol, Iran.
authors.forename: Vahid
authors.initials: V
authors.lastname: Kholghi Oskooei
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Esmaeili Dooki
authors.forename: Reza
authors.initials: R
authors.lastname: Tabaripour
authors.forename: Sara
authors.initials: S
authors.lastname: Mirzajani
authors.forename: Roghieh
authors.initials: R
authors.lastname: Pourbagher
authors.forename: Haleh
authors.initials: H
authors.lastname: Akhavan-Niaki
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003062:Codon; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007492:Iran / Q000453:epidemiology; D008297:Male; D009154:Mutation; D055815:Young Adult
chemical_list: D003062:Codon; D019005:Cystic Fibrosis Transmembrane Conductance Regulator