Method of Diagnosing the Risk of Thermolabile Phenotype Diseases by Using Gene
    3.
    发明申请
    Method of Diagnosing the Risk of Thermolabile Phenotype Diseases by Using Gene 审中-公开
    使用基因诊断耐热性表型疾病风险的方法

    公开(公告)号:US20080187918A1

    公开(公告)日:2008-08-07

    申请号:US11791079

    申请日:2005-11-18

    摘要: The invention relates to a method of diagnosing a risk of a thermolabile phenotype disease including or caused by influenza encephalitis/encephalopathy, Reye's syndrome, RS virus infectious disease, adenovirus infectious disease, rhinovirus infectious diseases, bastard measles, Japanese encephalitis, malaria infectious disease, Kawasaki disease and sudden infant death syndrome, characterized by examining whether or not an enzymatic activity of at least one enzyme involved in any of various transporters, carnitine cycle, long-chain β oxidation cycle, medium-chain/short-chain β oxidation cycle, electron transfer, synthesis of a ketone and production of ATP involved in energy metabolism in mitochondria is significantly lower compared with healthy subjects at 39° C. or higher when referring the enzymatic activity at 37° C. as to 100%.

    摘要翻译: 本发明涉及一种诊断包括或由流感脑炎/脑病,雷耶综合症,RS病毒感染病,腺病毒感染病,鼻病毒感染性疾病,混合麻疹,日本脑炎,疟疾传染病等引起的热不稳定表型疾病风险的方法, 川崎病和婴儿猝死综合征,其特征在于检查参与各种转运蛋白,肉碱循环,长链β氧化循环,中链/短链β氧化循环中的至少一种酶的酶活性, 当将37℃的酶活性提高至100%时,电子转移,酮的合成和参与线粒体能量代谢的ATP的产生与39℃或更高的健康受试者相比显着降低。

    Method for detecting polymorphism of human cytochrome P4501A2 gene
    5.
    发明授权
    Method for detecting polymorphism of human cytochrome P4501A2 gene 失效
    人细胞色素P4501A2基因多态性检测方法

    公开(公告)号:US5719026A

    公开(公告)日:1998-02-17

    申请号:US605089

    申请日:1996-03-06

    CPC分类号: C12Q1/6876 C12Q2600/156

    摘要: The present invention provides a method for detecting polymorphism of the human cytochrome P4501A2 (CYP1A2) gene in which substitution at a 2064th base, substitution at a 2640th base, and/or deletion of a -1569th base in a nontranslational region of the human cytochrome P4501A2 gene are/is detected. According to the method of the invention, new types of polymorphism of the CYP1A2 gene can be detected simply and easily with high sensitivity and accuracy, and the method requires only a small amount of a DNA sample.

    摘要翻译: PCT No.PCT / JP95 / 01352 Sec。 371日期1996年3月6日 102(e)日期1996年3月6日PCT Filed 1995年7月6日PCT公布。 出版物WO96 / 01328 日期1996年1月18日本发明提供了一种检测人类细胞色素P4501A2(CYP1A2)基因多态性的方法,其中在第2064位碱基取代,第2640位碱基取代,和/或在非翻译区域中第1569位碱基缺失 的人细胞色素P4501A2基因被检测到。 根据本发明的方法,可以以高灵敏度和准确性简单且容易地检测CYP1A2基因的新型多态性,该方法仅需少量的DNA样品。