首页> 外国专利> ASSOCIATING SOMATIC GENE MUTATIONS IN GLYCOPHORIN A WITH COMPLEX MULTIFACTORIAL DISEASES

ASSOCIATING SOMATIC GENE MUTATIONS IN GLYCOPHORIN A WITH COMPLEX MULTIFACTORIAL DISEASES

机译:将糖蛋白A中的体细胞基因突变与复杂的多因素疾病相关联

摘要

In the detection of a complex multifactorial disease, an MN blood group typing is performed on a first blood sample of a subject to be tested for a complex multifactorial disease, and on a second blood sample of a control subject having known phenotypes. Erythrocytes from the samples are isovolumetrically sphered, and M alleles and N alleles expressed on surfaces of erythrocyte cells of the first and second blood samples are labeled by contacting the blood samples with anti-M antibodies and anti-N antibodies associated with a marker. Labeled M alleles and labeled N alleles in the first and second blood samples are detected and quantified using the marker, in order to determine an incidence of somatic mutations in Glycophorin A of the patient. The incidence is compared with data pertaining to patients with a known complex multifactorial disease, to diagnose the patient.
机译:在检测复杂的多因素疾病中,对要测试的复杂多因素疾病的受试者的第一血液样品和具有已知表型的对照受试者的第二血液样品进行MN血型分型。将来自样品的红细胞等体积球化,并且通过使血液样品与抗M抗体和与标记物相关的抗N抗体接触来标记在第一和第二血液样品的红细胞表面上表达的M等位基因和N等位基因。为了确定患者的糖皮质激素A中体细胞突变的发生率,使用该标记物检测并定量了第一和第二血液样品中的标记的M等位基因和标记的N等位基因。将该发病率与与患有已知复杂多因素疾病的患者有关的数据进行比较,以诊断该患者。

著录项

  • 公开/公告号WO2014190358A1

    专利类型

  • 公开/公告日2014-11-27

    原文格式PDF

  • 申请/专利权人 NOVA SOUTHEASTERN UNIVERSITY;

    申请/专利号WO2014US39626

  • 发明设计人 GRANT STEPHEN G.;LATIMER JEAN J.;

    申请日2014-05-27

  • 分类号G01N33/80;

  • 国家 WO

  • 入库时间 2022-08-21 15:09:54

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