title: Poly thymidine polymorphism and cystic fibrosis in a non-Caucasian population.
abstract: BACKGROUND
  Cystic fibrosis is a monogenic recessive disorder found predominantly in Caucasian population. This disease arises from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. In this study we consider poly T polymorphism c.1210-12T[5], c.1210-12T[7], c.1210-12T[9] (T{5}, T{7}, T{9}) in the intron 8 of CFTR gene in normal individuals and cystic fibrosis patients in the north of Iran.
  
  
  METHODS
  40 CF patients and 40 normal individuals were screened for poly T polymorphism in intron 8 of CFTR gene using Reverse Dot Blot method which was also used to detect p.Phe508del among CF patients.
  
  
  RESULTS
  T{7} allele is the most prevalent in both normal and CF patients. Its abundance is approximately 75%. T{9} and T{5} represent approximately 20% and 5% of alleles respectively. T{7}/T{7} genotype is the most present in both normal and CF patients with 72.5% and 60% prevalence respectively. p.Phe508del was present in 13 CFTR alleles belonging to 7 patients with either homozygote T{9}/ T{9}, T{7}/ T{7} or compound heterozygote T{7}/ T{9} genotypes.
  
  
  CONCLUSIONS
  Contrary to the Caucasians, T{7} allele is more frequent in Northern Iranian CF patients. The presence of p.Phe508del and T{7} allele in the same framework is reported for the first time in this part of the world. Further investigations of other populations will help to understand whether p.Phe508del arose by selection pressure in this part of the world or was imported from European countries. The abundance of T{5}, T{7}, T{9} alleles indicates that this polymorphism can be used as one of the informative markers for detection of normal and mutant alleles in prenatal diagnosis or carrier assessment in families with previous history of the disease in regions with high degree of CFTR mutation heterogeneity.
authors.affiliation: Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.
authors.forename: Reza
authors.initials: R
authors.lastname: Tabaripour
authors.forename: Haleh Akhavan
authors.initials: HA
authors.lastname: Niaki
authors.forename: Mohammad Reza Esmaeeli
authors.initials: MR
authors.lastname: Douki
authors.forename: Javad Tavakkoly
authors.initials: JT
authors.lastname: Bazzaz
authors.forename: Bagher
authors.initials: B
authors.lastname: Larijani
authors.forename: Parichehr
authors.initials: P
authors.lastname: Yaghmaei
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D007492:Iran; D008297:Male; D011110:Polymorphism, Genetic; D013936:Thymidine / Q000235:genetics*; D044465:White People
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D013936:Thymidine