| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2012: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2011: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2010: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Research Abstract |
The aim of the present study was to perform a case-control study using single nucleotide polymorphisms (SNPs) and haplotypes in order to identify novel mutations in the candidate genes. We enrolled 42 patients with spinocerebellar degeneration, 6 patients with Huntington disease, 3 patients with multiple endocrine neoplasia and 23 patients with Gitelman’s syndrome. The all patients were diagnosed by the genetic testing such as nucleotide sequencing and polymerase chain reaction (PCR). The SNPs for the haplotype-based case-control study have been selected. We are going to get the achievements of the project.
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