Reappraisal of Frequency of Common Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Iranian Cystic Fibrosis Patients

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KHALILZADEH SOHEILA; HASSANZAD MARYAM; POURABDOLLAH TOUTKABONI MIHAN; TASHAYOIE NEJAD SABEREH; Sheikholeslami Fatemeh Maryam; VELAYATI ALI AKBAR

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Journal: TANAFFOS Year:2018 | Volume:17 | Issue:2 Page(s): 73-81

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Title

Reappraisal of Frequency of Common Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Iranian Cystic Fibrosis Patients

Author(s)

Keywords

Cystic Fibrosis

Gene

Mutation

Iran

Patients

Genotype

Phenotype

Abstract

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.

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APA: Copy

KHALILZADEH, SOHEILA, HASSANZAD, MARYAM, POURABDOLLAH TOUTKABONI, MIHAN, TASHAYOIE NEJAD, SABEREH, Sheikholeslami, Fatemeh Maryam, & VELAYATI, ALI AKBAR. (2018). Reappraisal of Frequency of Common Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Iranian Cystic Fibrosis Patients. TANAFFOS, 17(2), 73-81. SID. https://sid.ir/paper/718769/en

Vancouver: Copy

KHALILZADEH SOHEILA, HASSANZAD MARYAM, POURABDOLLAH TOUTKABONI MIHAN, TASHAYOIE NEJAD SABEREH, Sheikholeslami Fatemeh Maryam, VELAYATI ALI AKBAR. Reappraisal of Frequency of Common Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Iranian Cystic Fibrosis Patients. TANAFFOS[Internet]. 2018;17(2):73-81. Available from: https://sid.ir/paper/718769/en

IEEE: Copy

SOHEILA KHALILZADEH, MARYAM HASSANZAD, MIHAN POURABDOLLAH TOUTKABONI, SABEREH TASHAYOIE NEJAD, Fatemeh Maryam Sheikholeslami, and ALI AKBAR VELAYATI, “Reappraisal of Frequency of Common Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Iranian Cystic Fibrosis Patients,” TANAFFOS, vol. 17, no. 2, pp. 73–81, 2018, [Online]. Available: https://sid.ir/paper/718769/en

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