Abstract: A nucleotide sequence, specifically a CTG triplet repeat, is shown to be expanded in individuals affected with myotonic dystrophy and can be identified in a sample obtained from an individual. Individuals in whom the CTG triplet repeat is present in normal copy number are likely to be minimally affected and individuals in whom the CTG triplet repeat occurs in abnormally high copy number are likely to be more severely affected.
Type:
Grant
Filed:
April 14, 1995
Date of Patent:
November 2, 1999
Assignees:
Massachusetts Institute of Technology, University of Wales College of Medicine
Inventors:
J. David Brook, David E. Housman, Duncan J. Shaw, Helen G. Harley, Keith J. Johnson
Abstract: A method by which a nucleotide sequence, specifically a CTG triplet repeat, shown to be expanded in individuals affected with myotonic dystrophy can be identified in a sample obtained from an individual. The present method can be used to identify individuals in whom the CTG triplet repeat is present in normal copy number and individuals in whom the CTG triplet repeat occurs in abnormally high copy number, as well as to further identify individuals likely to be minimally affected and individuals likely to be more severely affected.
Type:
Grant
Filed:
April 14, 1995
Date of Patent:
September 21, 1999
Assignees:
Massachusetts Institute of Technology, University of Wales College of Medicine
Inventors:
J. David Brook, David E. Housman, Duncan J. Shaw, Helen G. Harley, Keith J. Johnson