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1. 发明申请

WO2003014390A3 SCREENING METHODS AND SEQUENCES RELATING THERETO 审中-公开
公开(公告)号：WO2003014390A3
公开(公告)日：2003-02-20
申请号：PCT/GB2002/003591
申请日：2002-08-02
申请人： UNIVERSITY OF WALES COLLEGE OF MEDICINE , SAMPSON, Julian, Roy , CHEADLE, Jeremy, Peter
发明人： SAMPSON, Julian, Roy , CHEADLE, Jeremy, Peter
IPC分类号： C12Q1/68
摘要： A screening method for identifying an individual having a pre-disposition towards having a cancer is disclosed, which screening method comprises the steps of : (a) obtaining a test sample comprising a nucleotide sequence comprised in a gene in a gene in a base excision repair (BER) pathway of the individual or an amino acid sequence of a polypeptide expressed thereby; and (b) comparing a region of the test sample sequence with the corresponding region of the wild type sequence, whereby a difference between the test sample sequence and the wild type sequence signifies that the individual is pre-disposed to having the cancer; and wherein the difference comprises a specified variation. The specified variation can be the known mutation in the human MYH protein, G382D-hMYH or a nucleotide sequence encoding it, or it can be one or more novel variations, namely, Y165C, E466X, and Y90X, or the respective corresponding nucleotide sequences. The method is particularly suitable for determining a pre-disposition towards bowel cancer.

2. 发明申请

WO9534649A3 POLYCYSTIC KIDNEY DISEASE 1 GENE AND USES THEREOF 审中-公开
标题翻译：多系杀虫病1基因及其用途
公开(公告)号：WO9534649A3
公开(公告)日：1996-01-04
申请号：PCT/GB9501386
申请日：1995-06-13
申请人： MEDICAL RES COUNCIL , UNIV LEIDEN , UNIV WALES MEDICINE , UNIV ERASMUS , HARRIS PETER CHARLES , PERAL BELEN , WARD CHRISTOPHER JAMES , HUGHES JAMES , BREUNING MARTIN HENDRIK , PETERS DOROTHEA JOHANNA MARIA , ROELFSEMA JEROEN HENDRIK , SAMPSON JULIAN , HALLEY DIRKJE JORIJNTJE JOHANN , NELLIST MARK DAVID , JANSSEN LAMBERTUS ANTONIUS JAC , HESSELING ARJENNE LIGUE WILHEL
发明人： HARRIS PETER CHARLES , PERAL BELEN , WARD CHRISTOPHER JAMES , HUGHES JAMES , BREUNING MARTIN HENDRIK , PETERS DOROTHEA JOHANNA MARIA , ROELFSEMA JEROEN HENDRIK , SAMPSON JULIAN , HALLEY DIRKJE JORIJNTJE JOHANN , NELLIST MARK DAVID , JANSSEN LAMBERTUS ANTONIUS JAC , HESSELING ARJENNE LIGUE WILHEL
IPC分类号： A61K38/00 , A61K48/00 , C07K14/47 , C07K16/18 , C12N5/10 , C12N15/12 , C12Q1/68 , G01N33/68
CPC分类号： C07K14/47 , A61K38/00
摘要： The present invention relates to the polycystic kidney disease 1 (PKD1) gene and its nucleic acid sequence, mutations thereof in patients having PKD1-associated disorders, the protein encoded by the PKD1 gene or its mutants, and their uses in disease diagnosis and therapy.

3. 发明申请

WO1995018226A1 TUBEROUS SCLEROSIS 2 GENE AND USES THEREOF 审中-公开
标题翻译： TUBEROUS SCLEROSIS 2基因及其用途
公开(公告)号：WO1995018226A1
公开(公告)日：1995-07-06
申请号：PCT/GB1994002823
申请日：1994-12-23
申请人： UNIVERSITY OF WALES COLLEGE OF MEDICINE , ERASMUS UNIVERSITY ROTTERDAM , MEDICAL RESEARCH COUNCIL , LEIDEN UNIVERSITY , SAMPSON, Julian , NELLIST, Mark, David , BROOK-CARTER, Phillip , MAHESHWAR, Magitha , HALLEY, Dirkje, Jorijntje, Johanna , JANSSEN, Lambertus, Antonius, Jacobus , HESSELING, Arjenne, Lique, Wilhelma , VAN DEN OUWELAND, Anna, Maria, Wilhelmina , HARRIS, Peter, Charles , WARD, Christopher, James , BREUNING, Martin, Hendrik , ROELFSEMA, Jeroen, Hendrik
发明人： UNIVERSITY OF WALES COLLEGE OF MEDICINE , ERASMUS UNIVERSITY ROTTERDAM , MEDICAL RESEARCH COUNCIL , LEIDEN UNIVERSITY
IPC分类号： C12N15/12
CPC分类号： C07K14/47 , A61K38/00
摘要： Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by widespread development of growths in many tissues and organs. A gene (TSC2) is identified on chromosome 16 which is mutated in TSC and which may behave as a tumour suppressor. Screening of actual or suspected TSC patients for normal or mutated TSC2 can be used for diagnostic purposes. TSC2 protein (tuberin) may be used to treat or prevent unrestrained cell division and/or tumour development in patients with or without TSC.
摘要翻译：结节性硬化症（TSC）是常染色体显性疾病，其特征在于许多组织和器官中生长的广泛发展。染色体16上鉴定出一种基因（TSC2），其在TSC中突变并可能表现为肿瘤抑制因子。筛查正常或突变TSC2的实际或疑似TSC患者可用于诊断目的。 TSC2蛋白（tuberin）可用于治疗或预防患有或不伴有TSC的患者的无限制细胞分裂和/或肿瘤发展。

4. 发明申请

WO1995034649A2 POLYCYSTIC KIDNEY DISEASE 1 GENE AND USES THEREOF 审中-公开
标题翻译：多系杀虫病1基因及其用途
公开(公告)号：WO1995034649A2
公开(公告)日：1995-12-21
申请号：PCT/GB1995001386
申请日：1995-06-13
申请人： MEDICAL RESEARCH COUNCIL , LEIDEN UNIVERSITY , UNIVERSITY OF WALES COLLEGE OF MEDICINE , ERASMUS UNIVERSITY ROTTERDAM , HARRIS, Peter, Charles , PERAL, Belen , WARD, Christopher, James , HUGHES, James , BREUNING, Martin, Hendrik , PETERS, Dorothea, Johanna, Maria , ROELFSEMA, Jeroen, Hendrik , SAMPSON, Julian , HALLEY, Dirkje, Jorijntje, Johanna , NELLIST, Mark, David , JANSSEN, Lambertus, Antonius, Jacobus , HESSELING, Arjenne, Ligue, Wilhelma
发明人： MEDICAL RESEARCH COUNCIL , LEIDEN UNIVERSITY , UNIVERSITY OF WALES COLLEGE OF MEDICINE , ERASMUS UNIVERSITY ROTTERDAM
IPC分类号： C12N15/12
CPC分类号： C07K14/47 , A61K38/00
摘要： The present invention relates to the polycystic kidney disease 1 (PKD1) gene and its nucleic acid sequence, mutations thereof in patients having PKD1-associated disorders, the protein encoded by the PKD1 gene or its mutants, and their uses in disease diagnosis and therapy.
摘要翻译：本发明涉及多囊肾病1（PKD1）基因及其核酸序列，其具有PKD1相关病症的患者的突变，由PKD1基因或其突变体编码的蛋白质及其在疾病诊断和治疗中的用途。

5. 发明申请

WO1995018225A1 POLYCYSTIC KIDNEY DISEASE 1 GENE AND USES THEREOF 审中-公开
标题翻译：多系杀虫病1基因及其用途
公开(公告)号：WO1995018225A1
公开(公告)日：1995-07-06
申请号：PCT/GB1994002822
申请日：1994-12-23
申请人： MEDICAL RESEARCH COUNCIL , LEIDEN UNIVERSITY , UNIVERSITY OF WALES COLLEGE OF MEDICINE , ERASMUS UNIVERSITY ROTTERDAM , HARRIS, Peter, Charles , PERAL, Belen , WARD, Christopher, James , HUGHES, James , BREUNING, Martin, Hendrik , PETERS, Dorothea, Johanna, Maria , ROELFSEMA, Jeroen, Hendrik , SAMPSON, Julian , HALLEY, Dirkje, Jorijntje, Johanna , NELLIST, Mark, David , JANSSEN, Lambertus, Antonius, Jacobus , HESSELING, Ajenne, Lique, Wilhelma
发明人： MEDICAL RESEARCH COUNCIL , LEIDEN UNIVERSITY , UNIVERSITY OF WALES COLLEGE OF MEDICINE , ERASMUS UNIVERSITY ROTTERDAM
IPC分类号： C12N15/12
CPC分类号： C07K14/47 , A61K38/00
摘要： Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder which frequently results in renal failure, due to progressive cyst development. The major locus, PKD1, maps to 16p13.3. A chromosome translocation is identified associated with ADPKD which disrupts a gene (PBP), encoding a 14 kb transcript, in the PKD1 candidate region. Further mutations of the PBP gene were found in PKD1 patients confirming that PBP is the PKD1 gene. This gene is located adjacent to the tuberous sclerosis (2) locus in a genomic region that is reiterated more proximally on 16p. The duplicate area encodes three transcripts substantially homologous to the PKD1 transcript. Partial sequence analysis of the PKD1 transcript shows that it encodes a novel protein. Screening of actual or suspected ADPKD patients for normal or mutated PKD1 can be used for diagnostic purposes. PKD1-associated disorders such as ADPKD may be treated or prevented by PKD1 gene therapy and/or administration of functional PKD1 protein to affected cells.
摘要翻译：常染色体显性多囊肾病（ADPKD）是一种常见的遗传性疾病，由于进行性囊肿发育，常常导致肾衰竭。 PKD1的主要位点映射到16p13.3。鉴定与ADPKD相关的染色体易位，其破坏在PKD1候选区域中编码14kb转录物的基因（PBP）。在PKD1患者中发现了PBP基因的进一步突变，证实PBP是PKD1基因。该基因位于邻近于在16p处更近端重复的基因组区域中的结节性硬化（2）基因座。重复区域编码与PKD1转录物基本上同源的三个转录物。 PKD1转录物的部分序列分析表明它编码一种新的蛋白质。正常或突变PKD1的实际或疑似ADPKD患者的筛查可用于诊断目的。 PKD1相关疾病如ADPKD可以通过PKD1基因治疗和/或向受影响的细胞施用功能性PKD1蛋白来治疗或预防。

6. 发明申请

WO2004090162A1 SCREENING METHODS AND SEQUENCES RELATING THERETO 审中-公开
标题翻译：筛选方法和与之相关的序列
公开(公告)号：WO2004090162A1
公开(公告)日：2004-10-21
申请号：PCT/GB2003/001656
申请日：2003-04-16
申请人： UNIVERSITY OF WALES COLLEGE OF MEDICINE , SAMPSON, Julian, Roy , CHEADLE, Jeremy, Peter
发明人： SAMPSON, Julian, Roy , CHEADLE, Jeremy, Peter
IPC分类号： C12Q1/68
CPC分类号： C12N9/22 , C12N9/2497
摘要： A screening method for identifying an individual having a pre-disposition towards having a cancer is disclosed, which screening method comprises the steps of: (a) obtaining a test sample comprising a nucleotide sequence comprised in the MYH gene of the individual or an amino acid sequence of a polypeptide expressed thereby; and (b) comparing a region of the test sample sequence with the corresponding region of the wild type sequence, whereby a difference between the test sample sequence and the wild type sequence signifies that the individual is pre-disposed to having the cancer; and wherein the difference comprises a specified variation.
摘要翻译：公开了一种用于鉴定患有癌症的预处理的个体的筛选方法，该筛选方法包括以下步骤：（a）获得包含单个MYH基因或氨基酸的核苷酸序列的测试样品由此表达的多肽的序列; 和（b）将测试样品序列的区域与野生型序列的相应区域进行比较，由此测试样品序列和野生型序列之间的差异表示预先处置患有癌症的个体; 并且其中所述差包括指定的变化。

7. 发明申请

WO2003014390A2 SCREENING METHODS AND SEQUENCES RELATING THERETO 审中-公开
标题翻译：筛选方法和与之相关的序列
公开(公告)号：WO2003014390A2
公开(公告)日：2003-02-20
申请号：PCT/GB2002/003591
申请日：2002-08-02
申请人： UNIVERSITY OF WALES COLLEGE OF MEDICINE , SAMPSON, Julian, Roy , CHEADLE, Jeremy, Peter
发明人： SAMPSON, Julian, Roy , CHEADLE, Jeremy, Peter
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6886 , C12Q2600/156 , C12Q2600/172
摘要： A screening method for identifying an individual having a pre-disposition towards having a cancer is disclosed, which screening method comprises the steps of : (a) obtaining a test sample comprising a nucleotide sequence comprised in a gene in a gene in a base excision repair (BER) pathway of the individual or an amino acid sequence of a polypeptide expressed thereby; and (b) comparing a region of the test sample sequence with the corresponding region of the wild type sequence, whereby a difference between the test sample sequence and the wild type sequence signifies that the individual is pre-disposed to having the cancer; and wherein the difference comprises a specified variation. The specified variation can be the known mutation in the human MYH protein, G382D-hMYH or a nucleotide sequence encoding it, or it can be one or more novel variations, namely, Y165C, E466X, and Y90X, or the respective corresponding nucleotide sequences. The method is particularly suitable for determining a pre-disposition towards bowel cancer.
摘要翻译：公开了一种用于鉴定具有癌症预处理的个体的筛选方法，该筛选方法包括以下步骤：（a）获得包含基因切除修复基因中的基因中包含的核苷酸序列的测试样品（BER）途径或由其表达的多肽的氨基酸序列; 和（b）将测试样品序列的区域与野生型序列的相应区域进行比较，由此测试样品序列和野生型序列之间的差异表示预先处置患有癌症的个体; 并且其中所述差包括指定的变化。指定的变体可以是人MYH蛋白，G382D-hMYH或编码它的核苷酸序列中的已知突变，或者可以是一个或多个新的变体，即Y165C，E466X和Y90X，或各自相应的核苷酸序列。该方法特别适用于确定对肠癌的预处理。

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