ArticleThe Journal of molecular diagnostics : JMD2006
A haplotype framework for cystic fibrosis mutations in Iran.
Article in The Journal of molecular diagnostics : JMD, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 39 citations in OpenAlex.
- Estimation of Chloride Channel Residual Function and Assessment of Targeted Drugs Efficiency in the Presence of a Complex Allele [L467F;F508del] in theInternational journal of molecular sciences · 2024Article
- Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade.Frontiers in genetics · 2023Article
- Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic AnalysisIranian biomedical journal · 2022Article
- A fuzzy rule-based expert system for diagnosing cystic fibrosis.Electronic physician · 2017Article
- Deep resequencing ofHuman genome variation · 2016Article
- Frequency of Genotype With ΔF508 Mutation in CFTR Gene Among Iranian Cystic Fibrosis Patients With Pancreatic Insufficiency.Iranian journal of pediatrics · 2015Article
- Mutation Analysis of Exons 10 and 17a of CFTR Gene in Patients with Cystic Fibrosis in Kermanshah Province, Western Iran.Journal of reproduction & infertility · 2014Article
- Analysis of CFTR Gene Mutations in Children with Cystic Fibrosis, First Report from North-East of Iran.Iranian journal of basic medical sciences · 2013Article
- Clinical and genetic features in patients with cystic fibrosis in southwestern iran.Iranian journal of pediatrics · 2013Article
- Analysis of c.3499+200TA(7_56) and D7S523 Microsatellites Linked to Cystic Fibrosis Transmembrane Regulator.International journal of molecular and cellular medicine · 2012Article
- Detecting Common CFTR Mutations by Reverse Dot Blot Hybridization Method in Cystic Fibrosis First Report from Northern Iran.Iranian journal of pediatrics · 2011Article
- Contributions of MYOC and CYP1B1 mutations to JOAG.Molecular vision · 2008Article
- CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.The Journal of molecular diagnostics : JMD · 2007Article
- Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.Annals of Saudi medicineArticle
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Authors and funding
14 authors at 7 institutions in 2 countries.
Funding
Abstract
This is the first comprehensive profile of cystic fibrosis transmembrane conductance regulator (CFTR) mutations and their corresponding haplotypes in the Iranian population. All of the 27 CFTR exons of 60 unrelated Iranian CF patients were sequenced to identify disease-causing mutations. Eleven core haplotypes of CFTR were identified by genotyping six high-frequency simple nucleotide polymorphisms. The carrier frequency of 2.5 in 100 (1 in 40) was estimated from the frequency of heterozygous patients and suggests that contrary to popular belief, cystic fibrosis may be a common, under-diagnosed disease in Iran. A heterogeneous mutation spectrum was observed at the CFTR locus in 60 cystic fibrosis (CF) patients from Iran. Twenty putative disease-causing mutations were identified on 64 (53%) of the 120 chromosomes. The five most common Iranian mutations together represented 37% of the expected mutated alleles. The most frequent mutation, DeltaF508 (p.F508del), represented only 16% of the expected mutated alleles. The next most frequent mutations were c.1677del2 (p.515fs) at 7.5%, c.4041C>G (p.N1303K) at 5.6%, c.2183AA>G (p.684fs) at 5%, and c.3661A>T (p.K1177X) at 2.5%. Three of the five most frequent Iranian mutations are not included in a commonly used panel of CF mutations, underscoring the importance of identifying geographic-specific mutations in this population.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.