公开(公告)号：EP1618210B1

公开(公告)日：2010-09-01

申请号：EP04728336.1

申请日：2004-04-20

申请人： Roche Diagnostics GmbH ,  F. Hoffmann-La Roche AG

发明人： HIGUCHI, Russell, Gene ,  PELTZ, Gary, Allen ,  FIJAL, Bonnie ,  RO, Sunhee, Kwon ,  LI, Jia

IPC分类号： C12Q1/68

CPC分类号： C12Q1/6883 ,  C12Q2600/156

摘要： Methods and reagents for determining sequence variants present at the FRZB locus, which facilitate identifying individuals at risk for obesity and/or osteoporosis, are provided. In particular, methods for detecting an individual's risk for obesity and/or osteoporosis by detecting at least one polymorphism (e.g., at least one single nucleotide polymorphism) in the FRZB gene in a nucleic acid sample from the individual are provided. Related kits, arrays and systems are also described.

公开(公告)号：EP1618210A1

公开(公告)日：2006-01-25

申请号：EP04728336.1

申请日：2004-04-20

申请人： Roche Diagnostics GmbH ,  F. HOFFMANN-LA ROCHE AG

发明人： HIGUCHI, Russell, Gene ,  PELTZ, Gary, Allen ,  FIJAL, Bonnie ,  RO, Sunhee, Kwon ,  LI, Jia

IPC分类号： C12Q1/68

CPC分类号： C12Q1/6883 ,  C12Q2600/156

摘要： Methods and reagents for determining sequence variants present at the FRZB locus, which facilitate identifying individuals at risk for obesity and/or osteoporosis, are provided. In particular, methods for detecting an individual's risk for obesity and/or osteoporosis by detecting at least one polymorphism (e.g., at least one single nucleotide polymorphism) in the FRZB gene in a nucleic acid sample from the individual are provided. Related kits, arrays and systems are also described.

公开(公告)号：EP1472377A2

公开(公告)日：2004-11-03

申请号：EP03734685.5

申请日：2003-01-23

申请人： F. Hoffmann-La Roche AG

发明人： FOERNZLER, Dorothee ,  HASHIMOTO, Lara ,  LI, Jia ,  LUEDIN, Eric ,  SLEIGHT, Andrew ,  VANKAN, Pierre

IPC分类号： C12Q1/68 ,  C07K7/22 ,  A61K31/436 ,  A61K31/00 ,  A61K38/00

CPC分类号： C12Q1/6883 ,  C12Q2600/156

摘要： The present invention relates to a method for correlating single nucleotide polymorphisms in the preprotachykinin (NKNA) gene with the efficacy and compatibility of a pharmaceutically active compound administered to a human being. The invention further relates to a method for determining the efficacy and compatibility of a pharmaceutically active compound administered to a human being which method comprises determining at least one single nucleotide polymorphism in the NKNA gene. Said methods are based on determining specific single nucleotide polymorphisms in the NKNA gene and determining the efficacy and compatibility of a pharmaceutically active compound in the human by reference to polymorphism in NKNA. The invention further relates to isolated nucleic acids comprising within their sequence the polymorphisms as defined herein, to nucleic acid primers and oligonucleotide probes capable of hybridizing to such nucleic acids and to a diagnostic kit comprising one or more of such primers and probes for detecting a polymorphism in the NKNA gene, to a pharmaceutical pack comprising NK-1 receptor antagonists and instructions for administration of the drug to human beings tested for the polymorphisms as well as to a computer readable medium with the stored sequence information for the polymorphisms in the NKNA gene.

摘要翻译： 本发明涉及使前列腺素原（NKNA）基因中的单核苷酸多态性与施用于人的药学活性化合物的功效和相容性相关联的方法。 本发明还涉及一种用于测定施用于人的药物活性化合物的功效和相容性的方法，所述方法包括测定NKNA基因中的至少一个单核苷酸多态性。 所述方法基于确定NKNA基因中的特异性单核苷酸多态性，并参照NKNA中的多态性测定药物活性化合物在人体中的功效和相容性。 本发明还涉及在其序列中包含本文所定义的多态性的分离的核酸与能够与此类核酸杂交的核酸引物和寡核苷酸探针以及包含一种或多种用于检测多态性的这种引物和探针的诊断试剂盒 在NKNA基因中，涉及包含NK-1受体拮抗剂的药物组合物，以及针对多态性测试的人的药物给药指示，以及具有存储的NKNA基因多态性序列信息的计算机可读介质。