Abstract: There is provided a purified amino acid sequence selected from the group of Sequence ID No.: 3 and analogs thereof and mutations of Sequence ID No.: 3 which cause ataxia-telangiectasia. Also provided is a purified amino acid sequence as set forth in Sequence ID No.: 3 and analogs thereof.
Type:
Grant
Filed:
February 26, 1998
Date of Patent:
April 3, 2001
Assignees:
The United States of America as represented by the Department
of Health and Human Services, Ramot University Authority for Applied Research and
Industrial Dev.
Inventors:
Yosef Shiloh, Danilo A. Tagle, Francis Collins
Abstract: A purified, isolated and cloned DNA sequence consisting essentially of a DNA sequence (SEQ ID No:1) partially encoding the gene, designated ATM, mutations in which cause ataxia-telangiectasia and a method for detecting carriers of the defective gene which causes ataxia-telangiectasia. The method includes isolating genetic material from a cell sample of a subject and the genetic material with molecular probes complementary to SEQ ID No:1 and point mutations, deletions or insertions thereof in order to detect carriers of the mutant gene.
Type:
Grant
Filed:
May 16, 1995
Date of Patent:
May 26, 1998
Assignee:
Ramot-University of Authority for Applied Research and Industrial Dev. Ltd.