| Project/Area Number |
17K16784
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Urology
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| Research Institution | Kanazawa University |
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Principal Investigator |
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| Research Collaborator |
Tajima Atsushi
Horike Shinichi
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| Project Period (FY) |
2017-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2017: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
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| Keywords | クラインフェルター症候群 / メチル化 / X染色体 / 精子形成 |
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| Outline of Final Research Achievements |
Phenotypic abnormality of Kleinfelter's syndrome is considered to be caused by a group of genes on the extra X chromosome that avoid inactivation. The methylation status of the entire genome was analyzed by microarray using genomic DNA obtained from peripheral blood of 8 patients with Kleinfelter syndrome (KS) and 4 males and 4 females with normal karyotype as controls. The concordance rate of methylation in X chromosome was 99.9% between KS group and female control group. There were 3315 probes considered to avoid X chromosome inactivation. Among these, there were 117 candidate genes considered to be involved in the phenotypic abnormality of KS because the probe is present in the CpG island.
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| Academic Significance and Societal Importance of the Research Achievements |
クラインフェルター症候群の症状に寄与している可能性がある遺伝子群として117個の遺伝子を候補として挙げることができた。これらのデータを基に、更に原因に寄与している遺伝子を絞り込むことによって、クラインフェルター症候群の症状の改善につながる治療法の開発などに寄与しうると考えられる。
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