CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations.(Original Article)(cystic fibrosis transmembrane conductance regulator )

• Published in: Faṣlnāmah-i pizishkī-i bārvar va nābārvar Vol. 19; no. 1; p. 3
• Main Authors: Karimi, Nasibeh, Alibakhshi, Reza, Almasi, Shekoufeh
• Format: Journal Article
• Language: English
• Published: Avicenna Research Institute 01.01.2018
• Subjects: Cystic fibrosis; Gene mutation; Genetic aspects; Health aspects; Identification and classification; Iran
• ISSN: 1726-7536; 1735-8507

Background: Cystic fibrosis (CF) is one of the most common autosomal recessive disorders in Caucasian population. The incidence of disorder varies among different religious, ethnic and geographical isolates. The aim of this study was to identify the spectrum and the frequency of known and unknown disease-causing mutations in Iranian CF patients. Methods: Genomic DNA was extracted from peripheral whole blood with a QIAamp DNA Mini-Kit. Mutation analysis was done in the CFTR gene including complete coding region and intron/exon boundaries using a direct sequencing method. Results: In general, ten mutations were identified in 27 CF cases. Two out of 10 mutations, 754delT and GGTGGCdel/TTGins, were reported as novel mutations. The most common observed mutations in patients were R334W (40.74%), [DELTA]F508 (18.5%), K710X (12.96%) and D110H (5.5%), 1897C>G (1.85%), R1162X (1.85%), S466X (1.85%) and T1036I (1.85%). Conclusion: The finding indicated a unique mutation panel which can be used in genetic counseling, prenatal diagnosis and future screening of CF in Iran. Although [DELTA]F508 is the most common mutation in other populations including Caucasian, this mutation seem not to have an important role in Iranian CF patients. Findings suggest that a different approach in molecular genetics diagnostic strategies in Middle Eastern countries including Iran should be considered. Keywords: CFTR gene, Cystic fibrosis, Iran, Middle East, R334W. To cite this article: Karimi N, Alibakhshi R, Almasi Sh. CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations. J Reprod Infertil. 2018;19(1):3-9.