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一种检测人类HER2基因拷贝数变异的方法和试剂盒

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摘要

本发明公开了一种检测人类HER2基因拷贝数变异的方法和试剂盒，本发明通过设计多重引物组，DNA样本提取定量后进行UMI PCR，磁珠纯化后进行半巢氏PCR，再一步纯化后进行index PCR和目标片段磁珠分选，最后经过NGS数据分析，计算样本HER2基因拷贝数变异情况。本发明与目前常规的HER2检测方法相比，本发明的方法可以检测到5％的拷贝数变化，大大提高了检测的灵敏度，样本量需求低，流程简单，不依赖主观判断；此外，可检测液态活检来源的样本。

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公开/公告号CN113621693A

专利类型发明专利
公开/公告日2021-11-09

原文格式PDF
申请/专利权人阅尔基因技术(苏州)有限公司;
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申请/专利号CN202110909030.4
发明设计人杨玉霞;罗俊峰;汪相江;吴若嘉;
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申请日2021-08-09
分类号C12Q1/6869(20180101);C12Q1/6886(20180101);G16B20/20(20190101);G16B25/20(20190101);
代理机构32257 苏州市中南伟业知识产权代理事务所(普通合伙);
代理人王玉仙
地址 215000 江苏省苏州市工业园区星湖街218号生物纳米园A7楼203室
入库时间 2023-06-19 13:12:12

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法律状态
2022-09-06

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1. 一种检测人类HER2基因拷贝数变异的方法和试剂盒 [P] . 中国专利： CN113621693A . 2021-11-09
2. 一种多内参结合序贯概率比检验分析HER2基因拷贝数变异的试剂盒及使用方法 [P] . 中国专利： CN112048560A . 2020-12-08
3. Combination, composition, device, and methods for detecting differential expression of one or more genes, to measure the effect of a test substance on the expression of one or more genes and a method for screening a test substance to formulate a prognosis, to manipulate the genom To a human or animal not the expression of the genome of an animal.To modulate the expression of one or more genes differentially expressed, to choose an animal for inclusion in one or more groups, and to produce an antibody, substance, transgenic animal, the computer system, isolated and purified antibody, kit, medium to communicate information. And uses of data and data of polinucleotu00ecdeo prognosticators [P] . BRPI0708488A2 . 2011-05-31

机译：用于检测一种或多种基因差异表达，测量受试物质对一种或多种基因表达的影响的组合，组合物，装置和方法，以及用于筛选预后，操纵预后的方法基因组（genom）对人类或动物而言，而不是动物基因组的表达。调节一种或多种差异表达基因的表达，选择一种或多种动物，并产生抗体，物质，转基因动物，计算机系统，分离和纯化的抗体，试剂盒，用于传达信息的介质。数据和polinucleot u00ecdeo预后者的数据的使用
4. isolated nucleic acid, recombinant vector, host cell, non-human transgenic mammal, method for screening a substance or molecule, kit for screening in vitro a candidate molecule or substance, method for screening in vivo a substance or molecule, kit or package for screening in vivo at least one candidate molecule or substance, transcription modifying substance of a polynucleotide of interest, pharmaceutical composition, method and kit for detecting abc1 gene transcription impairment in an individual, and, kit or package to screen a candidate molecule or substance [P] . BR0110541A . 2003-04-01

机译：分离的核酸，重组载体，宿主细胞，非人类转基因哺乳动物，筛选物质或分子的方法，体外筛选候选分子或物质的试剂盒，体内筛选物质或分子的方法，试剂盒或包装体内至少一种候选分子或物质，目的多核苷酸的转录修饰物质，药物组合物，用于检测个体中abc1基因转录损伤的方法和试剂盒以及筛选候选分子或物质的试剂盒或包装
5. isolated polynucleotide, expression cassette, host cell, isolated polypeptide, non-human transgenic animal that has been altered to express an alkali resistant mutant polypeptide, an antibody that specifically binds to an alkali resistant mutant polypeptide, a mutation detection kit alk inhibitor resistance in a biological sample, and methods for evaluating a biological sample for an alk inhibitor resistance mutation to diagnose cancer that is resistant to or likely to develop resistance to at least one alkaline inhibitor. small alk molecule kinase, to evaluate a biological sample for an alk inhibitor resistance mutation, to diagnose cancer that is resistant to or likely to develop resistance to pf-02341066 in a patient, to specifically reduce expression of an alk-resistant mutant to treat cancer associated with activating aberrant loop capacity that is resistant to at least one small molecule alk kinase inhibitor treating an aberrant cancer that is resistant to pf-02341066, identifyin [P] . BR112012026239A2 . 2018-06-26

机译：分离的多核苷酸，表达盒，宿主细胞，分离的多肽，已被改变以表达耐碱突变体多肽的非人类转基因动物，与耐碱突变体多肽特异性结合的抗体，突变检测试剂盒生物样品，以及用于评估生物样品中是否存在对烷基抑制剂的抗性突变以诊断对至少一种碱性抑制剂有抗药性或可能发展出抗药性的癌症的方法。小分子激酶，用于评估生物学样品中是否具有抑制碱性磷酸酶抑制剂的突变，以诊断对患者具有抗药性或可能对pf-02341066产生抗药性的癌症，从而特异性降低抗癌突变体的表达以治疗癌症与激活抗至少一种小分子烷基激酶抑制剂的异常环路能力有关，该抑制剂治疗对pf-02341066有抵抗力的异常癌症