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Cell Journal، جلد ۱۳، شماره Supplement، صفحات ۰-۰
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عنوان انگلیسی O-5: Molecular Screening of Two Polymorphisms and Seventeen Common CFTR Mutationsin Cystic Fibrosis Patients in the North of Iran
چکیده انگلیسی مقاله Objective: The autosomal recessive disease cystic fibrosis (CF) is caused by a wide spectrum of mutations in the gene encoding for the CF transmembrane conductance regulator protein, a cAMP regulated chloride channel located in the apical membrane of secretory epithelial cells. CFTR mutations vary in their frequency and distribution in different populations. In this study the frequency of common CFTR mutations was determined in the north of Iran. Materials and Methods: Fifty five non relative Iranian cystic fibrosis patients aged between three month to eighteen years old living in Mazandaran province were screened for seventeen mutations and two polymorphisms using Reverse Dot Blot method. Results: Only three mutations were found. The frequency of deltaF508, 515Fs, 3130-A alleles were 20%, 1.8% and 3.6% respectively. Analysis of polyT polymorphism showed that T7 allele is the most frequent allele among normal and mutant CFTR genes. Conclusion: These findings will be used in diagnosis of regional spectrum of mutations and planning genetic counseling in the north of Iran and also can be useful in prenatal diagnosis or carrier assessment in families with previous history of the disease.
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نشانی اینترنتی http://celljournal.org/journal/article/abstract/1513
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