Ataxia-telangiectasai gene

Details Ataxia-telangiectasai gene Ataxia-telangiectasai gene

1995-05-16

1998-05-26

Arthur, Lisa B.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

536 231, 536 232, 536 2431, C12Q 168, C07H 2104

Patent

active

057562881

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.

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