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Detection of the responsible for sudden unexplained death using genetic polymorphisms

利用基因多态性检测不明原因猝死的罪魁祸首

基本信息

批准号：
14370157
负责人：
ISHITANI Akiko
金额：
$ 7.3万
依托单位：
Nara Medical University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (B)
财政年份：
2002
资助国家：
日本
起止时间：
2002 至 2003
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-14370157/
关键词：
SNPs HLA KIR Unexplained Sudden Death susceptible gene cedar pollen allergy rheumatoid arthritis cleft lip palate Sudden death Susceptible gene Pollen allergy Cleff Lip Palate Rhematoid Arthritis Cleft lip

项目摘要

The original purpose of this study is to detect responsible genes for unexplained sudden death using DNA samples from dead bodies. Although, it was extremely difficult to collect these samples, because the ethics committee have not started yet in the medical examiner's office in Osaka or Kobe, where we had expected to get these samples. Therefore, we started to collect blood samples from patients with arrythmia related to sudden death.We also studied on the detection of the susceptible genes for Japanese cedar pollen allergy, rheumatoid arthritis and cleft lip/ palate using SNPs in HLA gene region and KIR gene polymorphism which should be used for sudden death study. We got following results.1)One hundred thirty one samples of cedar pollen allergy, 92 samples of rheumatoid arthritis (RA), 70 samples of cleft lip/palate and 180 normal samples were collected with informed consent, and used for 165 SNPs typing in HLA region, Killer Immunoglobulin Receptor (KIR) gene and haplotype typing, and HLA-A, -B, -DR typing.2)The association of cedar pollen allergy with SNPs in the region from HLA-A to HLA-C, RA with SNPs around HLA-DR, and cleft lip/palate with HLA-B and MICA were found.3)The association of RA with KIR 3DL1 gene were found.

这项研究的最初目的是利用尸体的DNA样本来检测原因不明的猝死的相关基因。尽管如此，收集这些样本是非常困难的，因为伦理委员会还没有开始在大坂或科比的体检医师办公室，我们希望得到这些样本。因此，我们开始收集与猝死相关的心律失常患者的血液样本，并利用HLA基因区域的SNPs和KIR基因多态性，对日本雪松花粉过敏、类风湿性关节炎和唇腭裂的易感基因进行了检测，这些基因可用于猝死研究。1）收集131例雪松花粉过敏患者、92例类风湿性关节炎（RA）患者、70例唇腭裂患者和180例正常人，在知情同意的情况下，进行HLA区域165个SNPs分型、杀伤免疫球蛋白受体（KIR）基因和单倍型分型、HLA-A、-B分型，结果表明：（1）雪松花粉过敏与HLA-A ~ HLA-C区域的SNPs相关，RA与HLA-DR区域的SNPs相关，唇腭裂与HLA-B和云母相关;（2）RA与KIR 3DL 1基因相关。