Abstract
Purpose
To investigate whether defects in human PRDM9, CDK2 and PSMC3IP are associated with azoospermia Mutational analysis was performed in Japanese patients with azoospermia caused by meiotic arrest.
Methods
Mutational screening of the coding regions of human PRDM9, CDK2 and PSMC3IP was done by direct sequencing using genomic DNA from 18 Japanese patients. Statistical analysis of the detected coding single nucleotide polymorphisms (cSNPs) in patients and normal control men was then carried out.
Results
One cSNP was detected in CDK2 and PSMC3IP. There were no significant differences in genotype distribution and allele frequencies between the patient and control groups in these two genes. However, three novel cSNPs were detected in the PRDM9. The genotype and allele frequencies of heterozygotes in SNP2 and SNP3 of PRDM9 were significantly higher in the patient group than in the control group.
Conclusion
We found a possible association between PRDM9 and azoospermia by meiotic arrest.
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Acknowledgments
This study was supported by Grants-in-Aid for Scientific Research (No. 19591887 and 20591902) from the Ministry of Education, Culture, Sports, Science and Technology of Japan, and the Ministry of Health, Labour and Welfare of Japan.
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Capsule The human PRDM9 (MEISETZ) gene might play a critical role in human spermatogenesis.
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Miyamoto, T., Koh, E., Sakugawa, N. et al. Two single nucleotide polymorphisms in PRDM9 (MEISETZ) gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest. J Assist Reprod Genet 25, 553–557 (2008). https://doi.org/10.1007/s10815-008-9270-x
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DOI: https://doi.org/10.1007/s10815-008-9270-x