公开(公告)号：US07449561B1

公开(公告)日：2008-11-11

申请号：US10371222

申请日：2003-02-24

Applicant: Steve S. Sommer ,  Jinong Feng ,  Carolyn Buzin ,  Jin Yan ,  Jeffrey Towbin

Inventor： Steve S. Sommer ,  Jinong Feng ,  Carolyn Buzin ,  Jin Yan ,  Jeffrey Towbin

IPC: C07H21/02 ,  C07H21/04 ,  C12Q1/68

CPC classification number: C12Q1/6883 ,  C12Q2600/156

Abstract: The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to detect a human sporadic DCM predisposing gene, specifically the dystrophin gene, some mutant alleles of which cause susceptibility to sporadic DCM. More specifically, the invention relates to germline mutations in the dystrophin gene and their use in the diagnosis of predisposition to sporadic DCM. The invention also relates to the prophylaxis and/or therapy of sporadic DCM associated with a mutation in the dystrophin gene. The invention further relates to the screening of drugs for sporadic DCM therapy. Finally, the invention relates to the screening of the dystrophin gene for mutations/alterations, which are useful for diagnosing the predisposition to sporadic DCM.

Abstract translation: 本发明一般涉及人类遗传学领域。 具体地说，本发明涉及用于检测人类散发性DCM倾向性基因，特别是肌营养不良蛋白基因的一些突变等位基因导致对散发性DCM的易感性的方法和材料。 更具体地，本发明涉及肌营养不良蛋白基因中的种系突变及其在诊断散发性DCM的易感性中的用途。 本发明还涉及与肌营养不良蛋白基因突变相关的散发性DCM的预防和/或治疗。 本发明还涉及用于零星DCM治疗的药物的筛选。 最后，本发明涉及用于突变/改变的肌营养不良蛋白基因的筛选，其可用于诊断散发性DCM的易感性。