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    • 5. 发明授权
    • Screening for mutations by expressing cDNA segments
    • 通过表达cDNA片段筛选突变
    • US5656425A
    • 1997-08-12
    • US108216
    • 1993-08-17
    • Jan P. Kraus
    • Jan P. Kraus
    • C12N9/88C12N15/10C12Q1/68C12P21/00
    • C12Q1/6827C12N15/102C12N9/88C07K2319/00
    • A rapid screening method is described for detecting, localizing, and expressing pathogenic mutations in patients suffering from diseases which can include genetically inherited diseases. The screening method allows simultaneous localization and expression of the mutation. By identifying the types and locations of the mutations causing a disease, the method can aid in determining the course of treatment for the disease. The method involves making an expression vector containing a sequence encoding an inactive enzyme by deleting a segment of the coding sequence of the enzyme in the vector, replacing the deleted segment with a corresponding segment from a patient's enzyme coding sequence to make a hybrid enzyme, expressing the hybrid enzyme and assaying the hybrid enzyme for activity to determine whether the Patient's enzyme cDNA contains a pathogenic mutation.
    • 描述了用于检测,定位和表达患有可能包括遗传性遗传疾病的疾病的患者的致病突变的快速筛选方法。 筛选方法允许同时定位和表达突变。 通过鉴定导致疾病的突变的类型和位置,该方法可以帮助确定疾病的治疗过程。 该方法包括通过缺失载体中酶的编码序列的片段来制备含有编码无活性酶的序列的表达载体,用来自患者的酶编码序列的相应片段代替缺失的片段以制备杂交酶,表达 杂交酶并测定杂交酶的活性以确定患者的酶cDNA是否含有致病突变。