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Showing 2 results for Cftr
Haleh Akhavan-Niaki (phd), Mohammad Reza Esmaeili Dooki (md), Ali Ghabeli Juibary (md),
Volume 10, Issue 3 (10-2008)
Abstract
Background and Objective: Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations caused by mutation in cystic fibrosis transmembrane conductance regulator (CFTR). The type of mutations and their distributions varies widely between different countries and/or ethnic groups. The aim of this study was to characterize mutations involved in this disease in Mazandaran province, Iran. Materials and Methods: In this descriptive study thirty unrelated Iranian cystic fibrosis patients were screened for deltaF508, N1303K, G542X, R347H and W1282X mutations in the CFTR gene using Reverse Dot Blot method during 2004-06. This technique uses biotinilated PCR products for simultaneous hybridization with several normal and mutant probes specific to known mutations fixed on Biodyne C membranes. Results: DeltaF508 mutation was found in 13 (21.66%) alleles. 6 patients were homozygote and one was compound heterozygote for this mutation. Conclusion: These findings reveal an important heterogeneity of CFTR gene mutations in Mazandaran Province. Thus regarding the relative low rate of detectable mutations, it is necessary to undertake larger studies for molecular diagnosis of cystic fibrosis in this province.
Asadi F, Hashemian Naeini Es,
Volume 16, Issue 2 (7-2014)
Abstract
Background and Objective: Mayer Rokitansky Kuster Hauser (MRKH) syndrome is characterized by Mullerian duct aplasia in an XX individual with female phenotype presenting primary amenorrhea at adolescence. This study was done to determine the mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene including DF508, G542X, N1303K, W1282X in patients with MRKH syndrome. Methods: This case-control study was performed on 25 females with MRKH syndrome and 25 healthy females. Blood sample was taken from each subject. DNA genomic was isolated by standard methods and common mutations of CFTR gene analyzed by ARMS-PCR. Results: DF508 gene was found in 3 in case and one individual in control group. G542X, N1303K and W1282X gene was not detected. Conclusion: DF508 gene was found in 12% of patients with MRKH syndrome.
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