ABSTRACT : Cystic fibrosis (CF) is the most common fatal multisystem genetic disorder inherited in an autosomal recessive
pattern that affects children and young adults. Disintegration of the mutations in cystic fibrosis transmembrane conductance
regulator (CFTR) gene in cystic fibrosis patients permit confirmation of the diagnosis of CF, enable genetic counseling of CF
families. This study was designed to determine the most common mutation in the CFTR gene and its frequencies in Iraqi
patients with cystic fibrosis disease. Equal to 4 ml of venous blood was collected from 30 cystic fibrosis patients who recruited
into AL-Imammian AL-Kadhmain teaching hospital. Conventional PCR for amplification of exon10 and 17a of CFTR gene then
sequenced in both forward and reverse direction was done. The most commonly encountered mutations were M470V 11(36.66%);
the second common mutation is the delta F508del 5 (16.6%), while frequency of S466X mutations did not exceed 1 (3.33%)
homozygous mutation. Identification of CFTR mutations in the CF patients is essential to set up practicable molecular diagnostics,
genetic guidance and patient management.
(FULL ARTICLE LINK) Read more ...
Vol. 20, No. 2, pp. 6177-6181, 2020
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