2018 Fiscal Year Final Research Report
idetification of the genes causing male infertility and habitual abortion by next generation sequencing in human
Project/Area Number |
16K11077
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Obstetrics and gynecology
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Research Institution | Asahikawa Medical College |
Principal Investigator |
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Co-Investigator(Kenkyū-buntansha) |
千石 一雄 旭川医科大学, 医学部, 教授 (30163124)
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Project Period (FY) |
2016-04-01 – 2019-03-31
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Keywords | azoospermia / male infertility / habitual abortion / gene |
Outline of Final Research Achievements |
In this study, identification of the causative genes of male infertility and habitual abortion, which are important causative agents that account for about half of infertility, and genetic elucidation of the pathophysiology of their pathogenesis, in male infertility We aimed to establish a less invasive and accurate diagnostic method and contribute to the improvement of the world of reproductive medicine. To date, exome analysis by next-generation sequencing was performed using DNA from human azoospermia patients, and 12 candidate gene groups responsible for azoospermia due to SCOS and MA were already identified from all human gene groups. All those knockout mice were generated and are currently under functional analysis.
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Free Research Field |
生殖医学
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Academic Significance and Societal Importance of the Research Achievements |
ヒト男性不妊症の原因遺伝子は多岐にわたるとされているものの、今日まで世界的に原因遺伝子として同定されたのはわずかにおよそ10遺伝子である。 今日までヒト無精子症患者からのDNAを用いて次世代シークエンス法によるエクソーム解析を行い、ヒトの全遺伝子群からすでにSCOS及びMAによる無精子症の原因候補遺伝子群を12個同定できたた。それらすべてのノックアウトマウスを作製し、現在機能解析中である。よって本研究は世界のトップレベルを走っていると自負する。
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