2021 Fiscal Year Final Research Report
The effect of Y chromosome microduplication on male infertility
| Project/Area Number |
19K09668
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Review Section |
Basic Section 56030:Urology-related
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| Research Institution | Kanazawa University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
田嶋 敦 金沢大学, 医学系, 教授 (10396864)
堀家 慎一 金沢大学, 学際科学実験センター, 准教授 (40448311)
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| Project Period (FY) |
2019-04-01 – 2022-03-31
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| Keywords | Y染色体 / 男性不妊症 |
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| Outline of Final Research Achievements |
It is well known that Y chromosome microdeletion is one of the causes of male infertility, especially azoospermia. Deletions and duplications are sometimes detected in the specific region of the long arm of the Y chromosome due to their structural characteristics. Because the regions including deletions and duplications are small, it is difficult to diagnose by conventional chromosomal karyotyping. Y chromosome microdeletions have been diagnosed by the classical test method of PCR and electrophoresis, but the MLPA method was focused on as a sensitive method that can also detect the increase in the number of gene copies. As a result, it was possible to detect not only deletions but also an increase in the number of copies, which was difficult to detect by conventional methods. The MLPA method was considered to be a useful method for examining the number of copies of the Y chromosome in male infertility.
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| Free Research Field |
男性不妊症
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| Academic Significance and Societal Importance of the Research Achievements |
不妊症の診療は2022年4月より一部が保険適用化され、男性不妊症患者におけるY染色体微小欠失の検査についても従来自費で行われていたが、保険適用されることとなった。今回保険適用された検出方法はPCR-rSSO法でコピー数の増加については検出することができない。一方で、MLPA法はコピー数の増加も検出することができ、またその検出方法は解析が難しいY染色体を調べるのに適していると考えられる。検査コストも抑えられるため、今後のスタンダードな検査法として検討できるのではないかと考えられる。
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