2011 Fiscal Year Final Research Report
Elucidation of the pathogenic mechanism for the hypogonadotropic hypogonadism and the development of the standard mutation analyses system in congenital hypogonadotropic hypogonadism.
| Project/Area Number |
21591188
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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 |
Endocrinology
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| Research Institution | National Research Institute for Child Health and Development |
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Principal Investigator |
SATO Naoko 独立行政法人国立成育医療研究センター, 分子内分泌研究部, 共同研究員 (10383069)
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| Co-Investigator(Kenkyū-buntansha) |
DATEKI Sumito 独立行政法人国立成育医療研究センター, 分子内分泌研究部, 共同研究員 (70462801)
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| Project Period (FY) |
2009 – 2011
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| Keywords | 成人不妊症 / DHPLC法 / 遺伝子診断システム / 標準的遺伝子診断法 / 少子化対策 / WAVEシステム / 遺伝的異質性 |
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| Research Abstract |
Congenital hypogonadotropic hypogonadism is a well-known representative disorder of infertility and gonadotropin therapy is effective for gain of fertility. The genetic heterogeneity of these disorders alludes to the possibility of diverse pathogenetic mechanisms underlying a complex genetic trait involving multiple genes(oligogenicity). Establishes a standard mutation analyses method by WAVE system improved the diagnostic efficiency. Also performs functional analysis in newly identified mutations revealed a part of the pathogenic mechanism that involved in various ligand-receptor systems of congenital hypogonadotropic hypogonadism.
In the future, we are planning to make database for the results of mutation analyses and clinical data. To elucidated pathophysiology and etiology of hypogonadotropic hypogonadism, next-generation sequencers will be useful for large-scale analysis.
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