| Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2011: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2010: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2009: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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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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