发明名称 |
METHODS FOR DETERMINING THE PRESENCE OR RISK OF DEVELOPING FACIOSCAPULOHUMERAL DYSTROPHY (FSHD) |
摘要 |
In one aspect, the invention provides a method of screening a human subject to determine if said subject has a genetic predisposition to develop, or is suffering from Facioscapulohumeral Dystrophy (FSHD), said method comprising: (a) providing a biological sample comprising genomic DNA from the subject; and (b) analyzing the portion of the genomic DNA in the sample corresponding to the distal D4Z4-pLAM region on chromosome 4 and determining the presence or absence of a polymorphism resulting in a functional polyadenylation sequence operationally linked to exon 3 of the DUX4 gene, wherein a determination of the absence of a functional polyadenylation sequence operationally linked to exon 3 of the DUX4 gene indicates that the subject does not have a genetic predisposition to develop, and is not suffering from FSHD, and/or wherein a determination of the presence of a functional polyadenylation sequence operationally linked to exon 3 of the DUX4 gene indicates that the subject has a genetic predisposition to develop, or is suffering from Facioscapulohumeral Dystrophy (FSHD). |
申请公布号 |
EP2606152(A2) |
申请公布日期 |
2013.06.26 |
申请号 |
EP20110818806 |
申请日期 |
2011.08.18 |
申请人 |
FRED HUTCHINSON CANCER RESEARCH CENTER;LEIDEN UNIVERSITY MEDICAL CENTER;UNIVERSITY OF ROCHESTER;SNIDER, LAUREN |
发明人 |
SNIDER, LAUREN;VAN DER MAAREL, SILVERE, M.;TAPSCOTT, STEPHEN, J.;TAWIL, RABI;LEMMERS, RICHARD, J.L.F.;GENG, LINDA |
分类号 |
C12Q1/68;A61K48/00;C12N15/11;G01N33/68 |
主分类号 |
C12Q1/68 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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