Investigating the Genetic Sequence of Exons and Exon-intron Junction Sequences of CFTR Gene by PCR Method in Families Suspected of Cystic Fibrosis in Khuzestan Province

Abstract

Background: Cystic fibrosis is one of the most fatal multisystem disorders and the most common autosomal recessive disease in the white population, which occurs due to mutations in cystic fibrosis membrane regulatory proteins (CFTR). The frequency of these mutations varies based on geographic location and race. The most common mutation in this gene is F508del. This study was conducted to identify other possible gene mutations involved in fibrocystic disease in Khuzestan province.Methods: In this study, first peripheral blood was taken on EDTA anticoagulant, and after DNA extraction, the PCR stage was performed with specific primers and electrophoresis. After that, DNA sequencing was done using Chromas software and finally, data analysis was done for the desired exons.Findings: The most common mutation in cystic fibrosis is the F508del mutation. Two new mutations were identified among the patients, and these mutations are located in exon 26 of the IVS25-1 region and exon 18 in the IVS18+42 region.Conclusion: The mutations obtained from this study are both heterozygous and homozygous and can be important for carrier detection, prenatal diagnosis, and treatment.

Keywords

• cftr
• genes
• cystic fibrosis
• exons
• genetic sequence