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J Assist Reprod Genet. 2011 Nov;28(11):1087-90. doi: 10.1007/s10815-011-9632-7. Epub 2011 Oct 6.

The prevalence of common CFTR mutations in Iranian infertile men with non-CAVD obstructive azoospermia by using ARMS PCR techniques.

Author information

1
Fars Science and Research branch, Islamic Azad University, Shiraz, Iran. ksafinejad@iaub.ac.ir.
2
Fars Science and Research branch, Islamic Azad University, Shiraz, Iran.
3
Research & Clinical Centre for Infertility, Shahid Sadoughi Medical Sciences University Yazd, Yazd, Iran.
4
Department of Molecular Medicine, Pastor Institute of Iran, Tehran, Iran.
5
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences and Health Services, Tehran, Iran.
6
Department of Biology, Faculty of Science, Payam Noor University (PNU), Tehran, Iran.
7
National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.
8
Department of Genetic, Special Medical Center, Tehran, Iran.

Abstract

PURPOSE:

To evaluate five common cystic fibrosis trans-membrane conductance regulator (CFTR) mutations (ΔF508, G542X, R117H, W1282X and N1303K) in the Iranian infertile men with noncongenital absence of vas deferens (CAVD) obstructive azoospermia.

METHODS:

The common CFTR gene mutations were tested on blood samples from 53 infertile men with non-CAVD obstructive azoospermia and 50 normal men as control individuals. Genomic DNA is extracted from the whole blood and the common CFTR mutations have been detected by the amplification refractory mutation system (ARMS) techniques.

RESULTS:

The common CFTR mutations were found positive in 5/53)9.43%(for ΔF508 and 4/53)7.55%(for G542X mutation of all patients tested. Also, no CFTR mutations were detected in the normal men.

CONCLUSION:

The common CFTR mutations were detected in 9/53(17%) infertile men with non-CAVD obstructive azoospermia. Pre-treatment CFTR mutation analysis remains critical to distinguish cystic fibrosis (CF) genotypes for men with non CAVD obstructive azoospermia.

KEYWORDS:

ARMS PCR; Common CFTR gene mutations; Infertile men; Non CAVD; Obstructive azoospermia

PMID:
21976147
PMCID:
PMC3224173
DOI:
10.1007/s10815-011-9632-7
[Indexed for MEDLINE]
Free PMC Article
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