Ataxia-telangiectasia gene and its genomic organization
OwnerYosef Shilohinventor
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Abstract
A gene, designated ATM, mutations of which cause ataxia-telangiectasia (A-T), that has been purified, isolated, and sequenced as well as mutations of the gene and the genomic organization of the gene. A method for identifying carriers of the defective A-T gene in a population and effective A-T gene products. The detection of A-T mutation carriers for use in determining cancer predisposition and radiation sensitivity so that carrier exposure to radiation can be properly monitored and avoided.
Claims27
A purified, isolated and cloned nucleic acid sequence encoding a gene, designated ATM, mutations in which cause ataxia-telangiectasia and polymorphisms thereof and which has a genomic organization as set forte in Tables 1 and 5.
A method for detecting carriers of a defective gene which causes ataxia-telangiectasia, said method comprising the steps of:
- a) isolating genetic material from an isolated cell sample from a test subject;
- b) performing restriction endonuclease fingerprinting (REF) or sequence analysis;
- and
- c) detecting the presence of the gene defect which causes ataxia-telangiectasia.
A method of detecting a mRNA sequence and polymorphisms and mutations thereof including the steps of:
- extracting from an isolated specimen mRNA;
- performing reverse transcription on the mRNA
- amplifying a selected open reading frame from the mRNA using RT-PCR obtained products;
- amplifying the resulting products using nested PCR primers and obtaining second products;
- subjecting the second products to restriction endonuclease fingerprinting (REF).
Dependencies are inferred from the claim text.