Abstract
Background and Objectives: Cystic fibrosis is the most common fatal genetic disorder among newborns. The inheritance pattern of this disease is autosomal recessive, with an incidence of 1 in 2500 newborns and carrier frequency of 1 in 25. This disease is due to mutations in CFTR gene. Most of the common mutations so far reported from this gene are located on exon 10, including the known mutation, DeltaF508 mutation. In this study we studied the exon 10 of this gene in CF patients referred from East Azerbaijan region by applying PCR-SSCP method.
Materials and Methods: Cystic fibrosis patients diagnosed by specialists were referred to the genetic center of Tabriz for molecular analysis. DNA was extracted from the whole peripheral blood and was analyzed for the mutations of exon 10 of CFTR gene by applying PCR-SSCP technique.
Results: In this study, 95 unrelated families were referred and on the basis of clinical and para- clinical manifestations, 46 families were selected for the study of exon 10 of CFTR gene. Twelve different patterns of SSCP were observed among 30 affected families (65%). Between them 12 patients showed homozygous and 17 showed heterozygous pattern for SSCP of exon 10. In one of the families, the affected child was deceased and its parents showed heterozygote pattern.
Conclusion: By applying this technique (PCR-SSCP) in our region, we could detect cystic fibrosis patients. This data can be used in population screening and in complement with sequencing in prenatal diagnosis of affected families.