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JMD 2006, Vol. 8, No. 1
Copyright © 2006 American Society for Investigative Pathology & Association for Molecular Pathology

A Haplotype Framework for Cystic Fibrosis Mutations in Iran

Elahe Elahi*,{dagger}{ddagger}, Ahmad Khodadad§, Ilya Kupershmidt, Fereshteh Ghasemi*,{dagger}, Babak Alinasab{ddagger}, Ramin Naghizadeh*, Robert G. Eason{ddagger}, Mahshid Amini||, Mehran Esmaili**, Mohammad R. Esmaeili Dooki{dagger}{dagger}, Mohammad H. Sanati{dagger}, Ronald W. Davis{ddagger}, Mostafa Ronaghi{ddagger} and Yvonne R. Thorstenson{ddagger}

From the Department of Biological Sciences, * Tehran University, Tehran, Iran; the National Institute for Genetic Engineering and Biotechnology, {dagger} Tehran, Iran; the Stanford Genome Technology Center, Stanford University, {ddagger} Palo Alto, California; Children’s Hospital Medical Center, GI Division, § Tehran University, Tehran, Iran; Silicon Genetics, South San Francisco, California; Shahid Beheshti University, || School of Medicine, Tehran, Iran; Esfahan University of Medical Sciences, ** Esfahan, Iran; and Amir Kola Children’s Hospital, {dagger}{dagger} Babol Medical University, Babol, Iran

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, {Delta}F508 (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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