Establishment of the new method to identify causal mutations in single-gene hereditary diseases - Applying the haplotype-based case-control studies-

本研究的目的是利用单核苷酸多态(SNPs)和单倍型进行病例对照研究，以确定候选基因中的新突变。我们纳入了42例脊髓小脑变性患者，6例亨廷顿病患者，3例多发性内分泌肿瘤患者和23例吉特尔曼综合征患者。所有患者均经核苷酸测序、聚合酶链式反应等基因检测确诊。以单倍型为基础的病例对照研究的SNPs已选定。我们将获得该项目的成果。

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.