Abstract
Background
Male infertility due to very severe oligozoospermia has been associated with some genetic risk factors.
Objective
To investigate the distribution of the mutations in the CFTR gene, the CAG-repeat expansion of the AR gene, also Y chromosome microdeletions and karyoty** abnormalities in very severe oligozoospermia patients.
Methods
In the present case–control study, 200 patients and 200 fertile males were enrolled. All patients and control group were karyotyped. Microdeletions were evaluated using multiplex PCR. Five common CFTR mutations were genotyped using the ARMS-PCR technique. The CAG-repeat expansion in the AR gene was evaluated for each individual using sequencing.
Results
Overall 4% of cases shows a numerical and structural abnormality. 7.5% of patients had a deletion in one of the AZF regions on Yq, and 3.5% had a deletion in two regions. F508del was the most common (4.5%) CFTR gene mutation; G542X, and W1282X were detected with 1.5% and 1% respectively. One patient was found to have AZFa microdeletion and F508del in heterozygote form; one patient had AZFb microdeletion with F508del. F508del was seen as compound heterozygous with G542X in one patient and with W1282X in the other patient. The difference in the mean of the CAG-repeats in the AR gene in patients and control groups was statistically significant (P = 0.04).
Conclusion
Our study shows the genetic mutations in men with severe oligozoospermia and given the possibility of transmission of these disorders to the next generation by fertilization, counseling and genetic testing are suggested for these couples before considering ICSI.
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Data availability
The statistics data used to support the findings of this study are available from the corresponding author upon request.
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Acknowledgements
The authors would like to thank all patients and control groups for their kind cooperation in this study.
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KS, general coordinator, who created the project. KS and MN designed the research study, organizated the project and performed the research. LJ performed PCR based experiments and analysis of DNA sequencing data.MH and MHM analysed the data and performed statistical analysis. KS, LJ and MN wrote comprehensive literature review. KS and LJ wrote the paper. All authors approved the final version of the manuscript and submission of the manuscript.
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Leyla Jafari, Kyumars Safinejad, Mahboobeh Nasiri, Mansour Heidari and Massoud Houshmand declare that they have no conflict of interest.
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The study was approved by the Ethics Committee in our local department [highly specialized Academic Center for Education, Culture and Research (ACECR) on May 2018].
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Useful information was taken from all subjects using a standard questionnaire. Informed consent to participate in the study was signed in advance by both patients and controls.
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Jafari, L., Safinejad, K., Nasiri, M. et al. The relationship between common mutations in CFTR, AR genes, Y chromosome microdeletions and karyoty** abnormalities with very severe oligozoospermia in Iranian men. Genes Genom 45, 519–529 (2023). https://doi.org/10.1007/s13258-022-01300-6
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DOI: https://doi.org/10.1007/s13258-022-01300-6