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一种检测遗传性耳聋易感基因突变的试剂盒

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摘要

本发明涉及一种检测遗传性耳聋易感基因突变的多重连接探针扩增检测试剂盒，包括突变位点特异性的检测探针、通用引物，以及阳性DNA模板、DNA连接酶、连接缓冲溶液、杂交液、PCR反应试剂；检测探针由一对短探针和长探针组成，对应一个突变位点。本方法灵敏度高，结果准确，相对传统检测技术，本试剂盒能一次性完成多个关键遗传性耳聋基因突变诊断的高通量筛查，具有经济、高效和高准确率的优势。

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公开/公告号CN104694629B

专利类型发明专利
公开/公告日2018-05-18

原文格式PDF
申请/专利权人江苏佰龄全基因生物医学技术有限公司;
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申请/专利号CN201510054294.0
发明设计人华琴;潘海波;邢楠楠;
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申请日2015-02-02
分类号C12Q1/6883(20180101);
代理机构31233 上海泰能知识产权代理事务所;
代理人黄志达
地址 225300 江苏省泰州市药城大道G01幢厂房东侧一层
入库时间 2022-08-23 10:11:05

法律信息

法律状态公告日

法律状态信息

法律状态
2018-05-18

授权

授权
2015-07-08

实质审查的生效 IPC(主分类):C12Q1/68 申请日:20150202

实质审查的生效
2015-06-10

公开

公开

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1. 一种检测遗传性耳聋易感基因突变的试剂盒 [P] . 中国专利： CN104694629B . 2018.05.18
2. 一种遗传性耳聋易感基因20个位点分型检测试剂盒 [P] . 中国专利： CN106399505A . 2017-02-15
3. method for specifically detecting the presence or absence of one or more single nucleotide mutations in one or more hiv-1 genes or proteins, method for detecting the presence or absence of mutations, selective oligonucleotide primer, oligonucleotide, kit for detecting a mutation , oligonucleotide blending for selective mutation detection and simultaneous detection of two or more mutations in one or more hiv-1 proteins [P] . BR112015029785A2 . 2017-09-26

机译：用于特异性地检测一种或多种hiv-1基因或蛋白质中一种或多种单核苷酸突变的存在或不存在的方法，用于检测突变的存在或不存在的方法，选择性寡核苷酸引物，寡核苷酸，用于检测突变的试剂盒，寡核苷酸掺合用于选择性突变检测并同时检测一种或多种hiv-1蛋白中的两个或多个突变
4. 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
5. Polinucleotu00eddeo insulated tape of expression, host cell, isolated transgenic non-human animal polypeptide, which has been modified to express a polypeptide mutant with resistance to ALK, antibody that binds specifically to a polypeptide mutant with resistance to ALK, kit p For detection of a mutation with resistance to ALK inhibitor in a biological sample, and,Methods for evaluating a biological sample as a mutation with resistance to ALK inhibitor, for diagnosing a cancer that is resistant to or is likely to develop resistance to at least one inhibitor of kinase small molecule ALK, to evaluate a biological sample that Anto a mutation with resistance to ALK inhibitor.For diagnosing a cancer that is resistant to or is likely to develop resistance to at least one inhibitor of kinase small molecule ALK, to assess the biological sample as a mutation with resistance to ALK inhibitor, a cancer that is resistant to dianosticar Or is likely to develop resistance to PF - 02341066 in a pati [P] . BR112012026239A2 . 2016-11-29

机译：修饰的多聚核苷酸绝缘带，宿主细胞，分离的转基因非人类动物多肽，经过修饰以表达对ALK具有抗性的多肽突变体，与对ALK具有抗性的多肽突变体特异性结合的抗体，试剂盒p用于检测生物样品中对ALK抑制剂具有抗性的突变，以及用于评估生物样品为对ALK抑制剂具有抗性的突变的方法，用于诊断对至少一种对ALK抑制剂具有抗性或可能发展出抗性的癌症激酶小分子ALK，以评估Anto对ALK抑制剂具有抗性的突变的生物样品。用于诊断对至少一种激酶小分子ALK抑制剂具有抗药性或可能产生抗性的癌症，以评估该生物样品作为对ALK抑制剂有抗性的突变，即对狄诺司他抗性或可能对PF产生抗药性的癌症-02341066