Abstract
Purpose
To investigate whether the human LMTK2 and PARP-2 gene defects are associated with azoospermia by meiotic arrest, mutational analysis was performed on Japanese men with azoospermia.
Methods
Via direct sequencing, mutational screening was carried out on the exon region of the genes, using genomic DNAs from 18 Japanese men. Statistical analysis was done on the detected single nucleotide polymorphisms (SNPs) in the patients and normal controls.
Results
Nine SNPs were detected in LMTK2 and five SNPs were detected in PARP-2. There were no significant differences in the genotype distribution and allele frequencies between the two groups in LMTK2. However, the genotype frequency of heterozygotes in SNP1 of PARP-2 was higher in the patient group. The haplotype analysis revealed that SNP1-SNP4 (T-A) of PARP-2 was significantly more frequent in the patient group.
Conclusion
The PARP-2 gene might be associated with azoospermia by meiotic arrest in humans.
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Acknowledgements
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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The PARP-2 gene might play a critical role in human spermatogenesis.
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Sakugawa, N., Miyamoto, T., Tsujimura, A. et al. LMTK2 and PARP-2 gene polymorphism and azoospermia secondary to meiotic arrest. J Assist Reprod Genet 26, 545–552 (2009). https://doi.org/10.1007/s10815-009-9347-1
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DOI: https://doi.org/10.1007/s10815-009-9347-1