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Journal of Assisted Reproduction and Genetics

Erschienen in:

01.11.2011 | Genetics

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

verfasst von: Kyumars Safinejad, Mojtaba Darbouy, Sayed Mahdi Kalantar, Sirus Zeinali, Reza Mirfakhraie, Leila Yadegar, Masoud Houshmand

Erschienen in: Journal of Assisted Reproduction and Genetics | Ausgabe 11/2011

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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.

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Titel: The prevalence of common CFTR mutations in Iranian infertile men with non-CAVD obstructive azoospermia by using ARMS PCR techniques
verfasst von: Kyumars Safinejad
Mojtaba Darbouy
Sayed Mahdi Kalantar
Sirus Zeinali
Reza Mirfakhraie
Leila Yadegar
Masoud Houshmand
Publikationsdatum: 01.11.2011
Verlag: Springer US
Erschienen in: Journal of Assisted Reproduction and Genetics / Ausgabe 11/2011
Print ISSN: 1058-0468
Elektronische ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-011-9632-7

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