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公开(公告)号：KR101360408B1
公开(公告)日：2014-02-12
申请号：KR1020110113099
申请日：2011-11-02
Applicant: 연세대학교 산학협력단 , 경희대학교 산학협력단
CPC classification number: C12Q1/6883 , C12Q2600/156
Abstract: 본 발명은 좌심실비대 진단용 키트 및 좌심실비대의 마커를 검출하는 방법에 관한 것이다. 본 발명은 좌심실비대에 몇몇 SNP들이 연관되어있다는 강력한 증거를 발견하였다. 이들 중요 SNP들의 존재여부에 대한 분석을 통해 좌심실비대를 예측할 수 있어 환자의 심혈관계 질환 상황을 예상하여 궁극적으로 심혈관 관련 질환의 간단한 유전학적 체외진단에 유용하게 이용될 수 있다.
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公开(公告)号：KR1020130105568A
公开(公告)日：2013-09-25
申请号：KR1020130090475
申请日：2013-07-30
Applicant: 연세대학교 산학협력단 , 경희대학교 산학협력단
CPC classification number: C12Q1/6883 , C12N15/11 , C12Q2600/156
Abstract: PURPOSE: A single nucleotide polymorphism (SNP) related to left ventricular hypertrophy is provided to predict cardiovascular diseases through diagnosis of left ventricular hypertrophy, thereby enabling genetic in vitro diagnosis on vascular diseases. CONSTITUTION: A kit for diagnosing left ventricular hypertrophy contains a primer or a probe which specifically binds to 10-100 continuous nucleotide sequences with one or more SNPs. The SNPs are selected among: 301th base of sequence number 1 and 201th base of sequence number 3 in ryanodine receptor 1 (RYR1) gene; 201th base of sequence number 4 in dopamine receptor D1 (DRD1) gene; 256th base of sequence number 5 in toll-interleukin 1 receptor domain containing adaptorprotein (TTRAP) gene; 201th base of sequence number 6, 502th base of sequence number 7, 301th base of sequence number 8, and 960th of sequence number 9 in family with sequence similarity 135, member B (FAM135B) gene; 301th base of sequence number 10 in UDP-N-acetylalpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4) gene; 251th base of sequence number 11 in dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1) gene; and 401th base of sequence number 12 in DnaJ (Hsp40) homolog, subfamily C, member 7 (DNAJC7) gene.
Abstract translation: 目的：提供与左心室肥大有关的单核苷酸多态性（SNP），通过诊断左心室肥大来预测心血管疾病，从而进行血管疾病的遗传体外诊断。 构成：用于诊断左心室肥大的试剂盒含有与一个或多个SNP特异性结合10-100个连续核苷酸序列的引物或探针。 SNY选自：兰诺定受体1（RYR1）基因序列号301的第301位和序列号3的第201位; 多巴胺受体D1（DRD1）基因序列号为第2位的第201位; 含有适应性蛋白（TTRAP）基因的toll-白细胞介素1受体结构域的序列号5的第256位碱基; 序列号6的第20个碱基，序列号7的第502个碱基，序列号8的第301个碱基和具有序列相似性的家族中序列号9的第9位135，成员B（FAM135B）基因; UDP-N-乙酰基-α-D-半乳糖胺中序列号10的第301位：多肽N-乙酰半乳糖胺基转移酶样4（GALNTL4）基因; 动力蛋白，细胞质2，重链1（DYNC2H1）基因中序列号11的第251位碱基; 和DnaJ（Hsp40）同系物，C科，成员7（DNAJC7）基因的序列号12的第401位碱基。
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公开(公告)号：KR1020130048319A
公开(公告)日：2013-05-10
申请号：KR1020110113099
申请日：2011-11-02
Applicant: 연세대학교 산학협력단 , 경희대학교 산학협력단
CPC classification number: C12Q1/6883 , C12Q2600/156 , C12Q2600/118
Abstract: PURPOSE: A kit for diagnosing left ventricular hypertrophy and a method for detecting a marker for left ventricular hypertrophy are provided to diagnose left ventricular hypertrophy or cardiovascular diseases through analysis of SNP related to left ventricular hypertrophy. CONSTITUTION: A kit for diagnosing left ventricular hypertrophy contains a primer or a probe which specifically binds to 10-100 continuous nucleotide sequences containing one or more SNP sites selected from the group consisting of: 301th site of sequence number 1, 201th site of sequence number 2, and 201th site of sequence number 3 as SNP sites of RYR1(ryanodine receptor 1) gene; 201th site of sequence number 4 as an SNP site of DRD1(dopamine receptor D1); 256th site of sequence number 5 as an SNP site of TTRAP(toll-interleukin 1 receptor domain containing adaptor protein); 201th site of sequence number 6, 502th site of sequence number 7, 301th site of sequence number 8, and 960th site of sequence number 9 as SNP sites of FAM135B(family with sequence similarity 135, member B) gene; 301th site of sequence number 10 as an SNP site of GALNTL4(UDP-N-acetyl-alpha-Dgalactosamine: polypeptide N-acetylgalactosaminyltransferase-like 4); 251th site of sequence number 11 as an SNP site of DYNC2H1 (dynein, cytoplasmic 2, heavy chain 1) gene; and 401th base of sequence number 12 as an SNP site of DNAJC7 (DnaJ (Hsp40) homolog, subfamily C, member 7).
Abstract translation: 目的：提供用于诊断左心室肥大的试剂盒和用于检测左心室肥大的标志物的方法，用于通过分析与左心室肥大相关的SNP来诊断左心室肥大或心血管疾病。 构成：用于诊断左心室肥大的试剂盒含有特异性结合10-100个连续核苷酸序列的引物或探针，该连续核苷酸序列含有一个或多个选自以下的SNP位点：序列号为第301位，序列号为第201位 2和第201位序列号3作为RYR1（兰诺定受体1）基因的SNP位点; 序列号4的第201位作为DRD1（多巴胺受体D1）的SNP位点; 序列号5的第256位作为TTRAP（含有白细胞介素1受体结构域的衔接蛋白）的SNP位点; 序列号6的第201位，序列号7的第502位，序列号8的第301位，序列号9的第960位作为FAM135B（具有序列相似性135，成员B）家族的SNP位点; 序列号10的第301位作为GALNTL4（UDP-N-乙酰基-α-半乳糖胺：多肽N-乙酰半乳糖胺基转移酶样4）的SNP位点; 作为DYNC2H1（动力蛋白，细胞质2，重链1）基因的SNP位点的序列号11的第251位点; 和序列号12的第401位，作为DNAJC7（DnaJ（Hsp40）同源物，C亚族，成员7）的SNP位点。
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