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ASSOCIATING SOMATIC GENE MUTATIONS IN GLYCOPHORIN A WITH COMPLEX MULTIFACTORIAL DISEASES
ASSOCIATING SOMATIC GENE MUTATIONS IN GLYCOPHORIN A WITH COMPLEX MULTIFACTORIAL DISEASES
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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
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摘要
In the detection of a complex multi-factorial 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 multi-factorial disease, to diagnose the patient.
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