2012 Fiscal Year Final Research Report
Establishment of the new method to identify causal mutations in single-gene hereditary diseases - Applying the haplotype-based case-control studies-
| Project/Area Number |
22590538
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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 |
Laboratory medicine
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| Research Institution | Nihon University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
NOBORI Tsutomu 三重大学, 医学(系)研究科(研究院), 教授 (60106995)
NOMURA Fumio 千葉大学, 医学(系)研究科(研究院), 教授 (80164739)
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| Project Period (FY) |
2010 – 2012
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| Keywords | 遺伝子 / 変異 / 多型 / 単一遺伝子疾患 / ハプロタイプ |
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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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