Ramot University Authority for Applied Research and Industrial Development Limited

Ramot University Authority for Applied Research and Industrial

Other

Ramot-university of Authority for Applied Research and Industrial Dev.

Yosef Shiloh

Francis S Collins

Danilo A Tagle

A purified and isolated gene, designated ATM, mutations of which cause ataxia-telangiectasia, its genomic organization, methods for the detection of the defective gene, the purified polypeptide encoded by the defective gene, and antibodies recognizing the defective protein.

Ataxia-telangiectasia gene and its genomic organization

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.

Ataxia-telangiectasia gene

A purified and isolated gene, designated ATM, is described mutations of which cause ataxia-telangiectasia and its genomic organization.

Mutated forms of the ataxia-telangiectasia gene and method to screen for a partial A-T phenotype

A purified and isolated gene, designated ATM, mutations of which cause ataxia-telangiectasia and its genomic organization is disclosed. Methods and a kit for the detection of carriers of mutations of the ATM gene are provided by analysis of nucleic acids isolated from patients including in situ hybridization, Northern blotting and reverse transcriptase--polymerase chain reaction, Southern blotting, single strand conformational polymorphism, restriction endonuclease fingerprinting (REF), PCR amplification and DNA-chip analysis.

A purified and isolated gene, designated ATM, mutations of which cause ataxia-telangiectasia.

cDNAs associated with ataxia-telangiectasia

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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Tel Aviv, Israel

Yosef Shiloh