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    • 6. 发明公开
    • 질량 분석법을 이용한 단일 염기 다형성 진단 시스템
    • 使用质量分析诊断单核苷酸多态性的系统
    • KR1020130107429A
    • 2013-10-02
    • KR1020120029185
    • 2012-03-22
    • 다이아텍코리아 주식회사
    • 박계신박형순이은희정우성류정림여윤지
    • C12Q1/68C12N15/11G01N33/68
    • C12Q1/6827C12Q1/6888C12Q1/706C12Q2525/107
    • PURPOSE: A single nucleotide polymorphism (SNP) diagnosis system using mass spectrometry is provided to quickly and accurately diagnose various diseases using a small amount of a sample. CONSTITUTION: A method for detecting SNP at a single mutational site or a multiplex mutation site comprises the steps of: hybridizing a specific peptide nucleic acid (PNA) probe with DNA; treating the prepared DNA-PNA complex with enzyme or chemical materials to cleave the DNA; and measuring the mass of isolated PNA by matrix-assisted laser desorption/ionization time of flight (MALDI-TOF). The PNA probe has base sequences of sequence numbers 5-7. A primer composition has a base sequence of sequence number 3 or 4. A kit for diagnosing SNP contains the PNA probe and the primer composition.
    • 目的:提供使用质谱法的单核苷酸多态性(SNP)诊断系统,使用少量样品快速准确地诊断各种疾病。 构成:在单个突变位点或多重突变位点检测SNP的方法包括以下步骤:将特异性肽核酸(PNA)探针与DNA杂交; 用酶或化学物质处理制备的DNA-PNA复合物以切割DNA; 并通过基质辅助激光解吸/电离飞行时间(MALDI-TOF)测量分离的PNA的质量。 PNA探针具有序列号5-7的碱基序列。 底漆组合物具有序列号3或4的碱基序列。用于诊断SNP的试剂盒含有PNA探针和底漆组合物。