公开(公告)号：US20090192135A1

公开(公告)日：2009-07-30

申请号：US11887346

申请日：2006-03-28

申请人： Jason Samuel Simon ,  Maha Chabhar Karnoub ,  Michael E. Severino ,  David James Devlin ,  Andrew Stewart Plump ,  Eric E. Schadt

发明人： Jason Samuel Simon ,  Maha Chabhar Karnoub ,  Michael E. Severino ,  David James Devlin ,  Andrew Stewart Plump ,  Eric E. Schadt

IPC分类号： A61K31/397 ,  C12Q1/60 ,  C12Q1/68 ,  C40B30/04 ,  C07H21/04

CPC分类号： C12Q1/6883 ,  C12Q2600/106 ,  C12Q2600/156 ,  C12Q2600/172

摘要： The present invention relates to the identification and use of single nucleotide polymorphisms and haplotypes in the Niemann Pick C1-Like 1 (NPC1L1) gene. In particular, methods are provided for correlating NPC1L1 polymorphisms and haplo-types with the responsiveness of a pharmaceutically active compound administered to a human subject. The invention further relates to a method for estimating the responsiveness of a pharmaceutically active compound administered to a human subject which method comprises determining at least one polymorphism in the NPC1L1 gene. The methods are based on determining polymorphisms in the NPC1L1 gene and correlating the responsiveness of a pharmaceutically active compound in the human by reference to one or more polymorphism in NPC1L1. 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 NPC1L1 gene.

摘要翻译： 本发明涉及Niemann Pick C1-Like 1（NPC1L1）基因中单核苷酸多态性和单元型的鉴定和应用。 特别地，提供了将NPC1L1多态性和单体类型与施用于人类受试者的药学活性化合物的反应性相关联的方法。 本发明还涉及一种用于估计施用于人受试者的药学活性化合物的反应性的方法，所述方法包括确定NPC1L1基因中的至少一个多态性。 该方法基于确定NPC1L1基因中的多态性，并通过参照NPC1L1中的一个或多个多态性将药物活性化合物在人体中的反应性相关联。 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引物和探针的诊断试剂盒 在NPC1L1基因中。