Molecular Diagnosis of Y-Chromosome Microdeletions in Some Kurdish Infertile Males: EAA/EMQN PCR Protocol Optimization.

Abstract

Globally about 15% of couples don’t achieve pregnancy within one year and look for medical treatments to with their infertility. Infertility is the incapability of couples to conceive a child after one year of unprotected intercourse. Male factors are responsible for about 50% of all infertility cases and genetic factors are diagnosed in about 15–20% of infertile males causing azoospermia or severe oligozoospermia. Several genes named azoospermia factor (AZF) present on the long arm of the human Y-chromosome are participated in spermatogenesis, and microdeletions in these genes have been recognized to be the second genetic cause of spermatogenetic failure after Klinefelter syndrome resulting in male infertility. In this current study, a simple PCR format is investigated for AZF microdeletion screening. This present study performed on 296 infertile Kurdish males, 289 patients with azoospermia (97.6%) and, 7 patients with severe azoospermia (2.4%), and 50 healthy fertile men as the control group in Erbil governorate/Iraq. Results showed that AZF deletions were found in 10 of 289 patients (3.5%), 3/10 (30%) had microdeletions in their AZFc region, 3/10 (30%) had microdeletions in the AZFb region, 3/10 (30%) in AZFb,c region, and the final one (10%) had microdeletions in all regions AZFa,b,c. No microdeletions were found both oligozoospermias and the normal group.

Keywords

• male infertility; y chromosome microdeletions; azf region; pcr technique.