US Patent:
20130288976, Oct 31, 2013
Inventors:
Silvere M. van der Maarel - Leiden, NL
Stephen J. Tapscott - Seattle WA, US
Rabi Tawil - Rochester NY, US
Richard J.L.F. Lemmers - Leiden, NL
Linda Geng - Seattle WA, US
Lauren Snider - Seattle WA, US
Assignee:
Fred Hutchinson Cancer Research Center - Seattle WA
University of Rochester Medical Center - Rochester NY
Leiden University Medical Center - Leiden
International Classification:
C12Q 1/68
G01N 33/68
US Classification:
514 177, 435 611, 435 612, 435 792, 435 613, 536 2433, 536 2431, 514 44 R
Abstract:
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).