2010 Fiscal Year Final Research Report
Comprehensive analysis of genes related to human azoospermia
| Project/Area Number |
20591902
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Obstetrics and gynecology
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| Research Institution | Asahikawa Medical College |
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Principal Investigator |
SENGOKU Kazuo Asahikawa Medical College, 医学部, 教授 (30163124)
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| Co-Investigator(Kenkyū-buntansha) |
MIYAMOYO Toshinobu 旭川医科大学, 医学部, 講師 (70360998)
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| Project Period (FY) |
2008 – 2010
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| Keywords | 無精子症 / 遺伝子 / 精子形成 / 減数分裂異常 |
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| Research Abstract |
We investigated whether the human PRDM9, CDK2, PMC3IP, LMTK2 and PARP-2 defects are associated with azoospermia by meiotic arrest using mutational analysis in Japanese patients with azoospermia. We found three novel SNPs in the PRDM9, and that the genotype and allele frequencies of heterozygotes in SNP2 and SNP3 of PRDM9 were significantly higher in the patient groups. We also detected five SNPs in PARP2, and showed that the genotype frequency of heterozygote in SNP1 of PARP2 was higher in the patients group. In addition, mutational analysis of SPATA 17 which was one of 10 novel genes implicated as a cause of male infertility identified by microarray analysis of human testicular tissue was conducted. Three SNPs were identified in the patients with meiotic arrest. The frequency of the SNP3 allele of SPATA17 was significantly elevated in the meiotic arrest group. These results suggest that PRDM9, PARP2 and SPATA17 might play critical roles in human spermatogenesis.
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Author(s)
Osumi D, Takahashi M, Miyosi E, Yokoe S, Lee SH, Noda K, Nakamori S, Gu J, Ikeda Y, Kuroki Y, Sengoku K, Ishikawa M, Taniguchi N
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Pages: 888-95
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