Investigation of mutations and polymorphisms in exon 11, 12, 22 and 23 in non caucasian cystic fibrosis patients from the north of iran

Mahshad Koohi kamali dehkordi,1,* Yegane aghabozorgi,2 Reza tabaripoor,3 Hadis poorreza,4



cystic fibrosis (cf) is the most common autosomal recessive disease in caucasians, caused by mutation in cystic fibrosis transmembrane conductance regulator (cftr) gene. more than 1800 mutations and polymorphisms, are recognized in cftr gene. the frequencies, types and distributions of mutations vary widely between different populations and ethnic groups. the aim of this investigation was to perform a comprehensive study of the cftr gene in an iranian heterogeneous population .


40 cf patients from the north of iran were analyzed for mutations and polymorphisms in exon 11,12,22,23 of cftr gene, using pcr and sequencing.


in this study, one mutation and three polymorphisms were identified in exon 22, intron 12, intron 22 and intron 23 respectively . the mutation in exon 22 was g203997g>c that change amino acid glycine to histidine in the position of 1352 of cftr protein. rs4148711 and rs1429568 were found in intron 12 and 23 respectively. one new polymorphism was found in intron 22.


the result of this study has shown that iranian population are heterogeneous and more studies are needed to prove the specific mutations frequency in this population. investigation of larger number of cf patients and availability of mutations panel covering a large number of alleles can facilitate phenotype prediction in prenatal diagnosis.


: cystic fibrosis, cftr gene, mutation, polymorphism.