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公开(公告)号：KR101228224B1
公开(公告)日：2013-01-31
申请号：KR1020100009008
申请日：2010-02-01
Applicant: 아주대학교산학협력단
Abstract: 본 발명은 혈우병 A의 진단에 이용가능한 8개의 FⅧ 유전자 돌연변이체, 상기 FⅧ 유전자의 돌연변이체를 검출하는 방법, 상기 FⅧ 유전자의 돌연변이체를 이용하여 혈우병 A를 진단하는 방법, 상기 FⅧ 유전자의 돌연변이체의 존재 여부를 확인하는 제제를 포함하는 혈우병 A 진단용 조성물 및 상기 조성물을 포함하는 혈우병 A 진단용 키트에 관한 것이다.
Abstract translation: 8个FⅧ基因的可用于诊断的突变体，检测FⅧ基因的突变，通过使用FⅧ基因的突变诊断血友病A的方法，血友病的基因FⅧ的突变体的方法本发明 以及包含该组合物的诊断血友病A的试剂盒。
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公开(公告)号：KR1020120088636A
公开(公告)日：2012-08-08
申请号：KR1020120069544
申请日：2012-06-28
Applicant: 아주대학교산학협력단
CPC classification number: C12Q1/6883 , C12Q2600/156 , G01N2800/224
Abstract: PURPOSE: Eight factor VIII gene mutants are provided to diagnose hemophilia A and to detect carrier. CONSTITUTION: A factor VIII gene mutant is a deletion mutant at 5741th position of a wild type factor VIII gene having a base of sequence number 1. The mutant is used for diagnosing hemophilia A. A method for detecting the mutant comprises: a step of isolating genome DNA from a patient who is suspicious for hemophilia A; a step of amplifying a mutant gene using the genome DNA; a step of identifying the amplified gene. A composition for diagnosing hemophilia A contains a primer or probe which specifically binds to the mutant. A kit for diagnosing hemophilia contains the composition.
Abstract translation: 目的：提供八个因子VIII基因突变体来诊断血友病A并检测载体。 构成：因子VIII基因突变体是具有序列号1的碱基的野生型VIII因子基因的第5741位的缺失突变体。突变体用于诊断血友病A.检测突变体的方法包括：分离步骤 来自可疑A型血友病患者的基因组DNA; 使用基因组DNA扩增突变基因的步骤; 鉴定扩增基因的步骤。 用于诊断血友病A的组合物含有与突变体特异性结合的引物或探针。 用于诊断血友病的试剂盒包含组合物。
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公开(公告)号：KR1020110089557A
公开(公告)日：2011-08-09
申请号：KR1020100009008
申请日：2010-02-01
Applicant: 아주대학교산학협력단
CPC classification number: C12Q1/6883 , C12Q1/6827 , C12Q2600/156
Abstract: PURPOSE: A novel F VIII gene mutant causing hemophilia A is provided to diagnose hemophilia A and detect carrier of hemophilia A. CONSTITUTION: A novel F VIII gene mutant contains a base sequence of sequence number 1. A deletion mutant is prepared by deletion of 5953th base, C. A deletion mutant is prepared by deletion of 207th base and 208th base, GT. A deletion mutant is prepared by deletion of 5860th-5865th bases, GCTCAG. A deletion mutant is prepared by deletion of 5471th base, A. A missense mutant is prepared by substitution of 5825th base, G with A. A method for detecting the F VIII gene comprises: a step of isolating genome DNA from a patient who possibly has hemophilia A; and a step of amplifying the genome DNA.
Abstract translation: 目的：提供一种引起血友病A的新型F VIII基因突变体，用于诊断血友病A并检测血友病A的载体。构成：新型F VIII基因突变体含有序列号1的碱基序列。缺失突变体通过删除5953th 碱基，C.通过删除第207碱基和第208碱基来制备缺失突变体。 通过删除第5860至第5865位碱基GCTCAG制备缺失突变体。 通过缺失第5471位碱基来制备缺失突变体A.通过用A取代第5825位碱基G制备错义突变体。检测F VIII基因的方法包括：从可能具有的基因组DNA分离基因组DNA的步骤 血友病A 和扩增基因组DNA的步骤。
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