Journal of Assisted Reproduction and Genetics

, Volume 25, Issue 11, pp 553–557

Two single nucleotide polymorphisms in PRDM9 (MEISETZ) gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest

  • Toshinobu Miyamoto
  • Eitetsu Koh
  • Naoko Sakugawa
  • Hisashi Sato
  • Hiroaki Hayashi
  • Mikio Namiki
  • Kazuo Sengoku
GENETICS

DOI: 10.1007/s10815-008-9270-x

Cite this article as:
Miyamoto, T., Koh, E., Sakugawa, N. et al. J Assist Reprod Genet (2008) 25: 553. doi:10.1007/s10815-008-9270-x

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.

Keywords

AzoospermiaCDK2PRDM9PSMC3IPSNP

Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • Toshinobu Miyamoto
    • 1
    • 3
  • Eitetsu Koh
    • 2
  • Naoko Sakugawa
    • 1
  • Hisashi Sato
    • 1
  • Hiroaki Hayashi
    • 1
  • Mikio Namiki
    • 2
  • Kazuo Sengoku
    • 1
  1. 1.Department of Obstetrics and GynecologyAsahikawa Medical CollegeAsahikawaJapan
  2. 2.Department of Integrated Cancer Therapy and UrologyKanazawa University Graduate School of Medical ScienceKanazawaJapan
  3. 3.Department of Obstetrics and GynecologyAsahikawa Medical CollegeAsahikawaJapan