Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1996-11-20
1998-06-23
Zitomer, Stephanie W.
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
536 231, 536 243, C12Q 168, C07H 2102, C07H 2104
Patent
active
057703728
ABSTRACT:
This invention pertains to methods for detecting mutations in the human ataxia telangiectasia (ATM) gene. The invention provides DNA sequences immediately flanking the exons in the 3' half of the gene. Also provided are primers that can be used in the polymerase chain reaction to amplify segments of the ATM gene corresponding to each of the 65 coding exons including its immediately flanking sequences. A number of mutations found in the human ATM gene are described also.
REFERENCES:
Savinsky et al., Science 268: 1749-1753 (Jun. 1993).
Wright et al., American J. Human Genetics 59(4): 839-846 (1996).
Byrd, P.J., et al., "Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia," Human Molecular Genetics 5:145-149 (1996).
Gatti, R.A., et al., "Localization of an ataxia-telangiectasia gene to chromosome 11q22-23," Nature 336:577-580 (1988).
Gilad, S., et al., "Predominance of null mutations in ataxia-telangiectasia," Human Molecular Genetics 5:433-439 (1996).
Lange, E., et al., "Localization of an ataxia-telangiectasia gene to an .about.500-kb interval on chromosome 11q23.1: Linkage analysis of 176 families by an international consortium," Am. J. Hum. Genet. 57:112-119 (1995).
Norman, A., et al., "Cancer management controversy: The importance of genetics for the optimization of radiation therapy," Am. J. Clin. Oncol. (CCT) 11(1):84-88 (1988).
Nowak, R., "Discovery of AT gene sparks biomedical research bonanza," Science 268:1700-1701 (1995).
Pippard, E.C., et al., "Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentation in Britain," Cancer Research 48:2929-2932 (1988).
Rasio, D., et al., "Genomic organization of the ATM locus involved in ataxia-telangiectasia," Cancer Research 55:6053-6057 (1995).
Savitsky, K., et al., "A single ataxia telangiectasia gene with a product similar to PI-3 kinase," Science 268:1749-1753 (1995a).
Savitsky, K., et al., "The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species," Human Molecular Genetics 4:2025-2032 (1995b).
Swift, M., et al., "Incidence of cancer of 161 families affected by ataxia-telangiectasia," N. Eng. J. Med. 325:1831-1836 (1991).
Swift, M., et al., "Breast and other cancers in families with ataxia-telangiectasia," N. Eng. J. Med. 316:1289-1294 (1987).
Telatar, M., et al., "Ataxia-telangiectasia: Mutations in ATM cDNA detected by protein-truncation screening," Am. J. Hum. Genet. 59:40-44 (1996).
Uziel, T., et al., "Genomic organization of the ATM gene," Genomics 33:317-320 (1996).
Vanagaite, L., et al., "A high-density microsatellite map of the ataxia-telangiectasia locus," Hum. Genet. 95:451-454 (1995).
Virginia Mason Research Center
Whisenant Ethan
Zitomer Stephanie W.
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