این سایت در حال حاضر پشتیبانی نمی شود و امکان دارد داده های نشریات بروز نباشند
Tanaffos، جلد ۱۷، شماره ۲، صفحات ۷۳-۸۱
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی Reappraisal of Frequency of Common Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Iranian Cystic Fibrosis Patients
چکیده انگلیسی مقاله Background: Cystic Fibrosis (CF) is a life-threatening recessive genetic disorder resulting from mutations in the gene encoding the fibrosis transmembrane conductance regulator protein (CFTR). The CF clinical phenotype shows wide variation ranging from severe disease in early childhood in those homozygous for the p.Phe508del mutation to absence of the vas deferens in otherwise healthy men homozygous for the p.Arg117His mutation. Materials and Methods: DNA was extracted from whole blood from 62 patients with CF. The CFTR mutation was determined by Allele-Specific PCR assay. The spearman and linear regression analysis were used to obtain the correlation between phenotype and genotype relationship. Results: Out of total 62 patients, 35 (56.4%) were male. The mean age of the patients was 15.56 ± 6.65 years. Mutations in CFTR were detected in 64.5% of the patients. The commonest mutations were p.Phe508del (33.9%), p.Arg117His; [5T] (5.64%), p.Arg117His; [7T] (4.03%) and p.Trp1282X (5.64%). Mutations p.Ile507del (4%), p.Gly542X (4%), p.Asn1303Lys (2.42%), c.489+1G>T (1.6%), p.Gly551Asp (1.6%) and c.1585-1G>A (1.6%) were also detected. Most mutations were detected in west and south of Iran, while p.Phe508del mutation was dominant mutation (75%) in east and southeast of Iran. The study showed either an association between this mutation with severity of disease and sex or an association between p.Arg117His mutations and age at diagnosis. Conclusion: The geographic distribution of gene mutation in Iranian cystic fibrosis patients was very heterogenic. In spite of the study that showed a correlation between p.Phe508del and severity of disease, to find any correlation between genotype and phenotype a broad and multi-centered study is recommended.
کلیدواژه‌های انگلیسی مقاله Cystic Fibrosis,gene,Mutation,Iran,patients,Genotype,Phenotype
نویسندگان مقاله Soheila Khalilzadeh |
Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Disease, (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran

Maryam Hassanzad |
Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Disease, (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran

Mihan PourAbdollah Toutkaboni |
Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Disease, (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran

Sabereh Tashayoie Nejad |
Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Disease, (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran

Fatemeh-Maryam Sheikholeslami |
Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Disease, (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran

Ali Akbar Velayati |
Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Disease, (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran

نشانی اینترنتی https://www.tanaffosjournal.ir/article_240062_bc584d4e103e6a86d75e8d8c13bc19a1.pdf
فایل مقاله فایلی برای مقاله ذخیره نشده است
کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده
نوع مقاله منتشر شده
برگشت به: صفحه اول پایگاه   |   نسخه مرتبط   |   نشریه مرتبط   |   فهرست نشریات