Diagnostic Test for Mutations in the AT Gene
BACKGROUND: Ataxia telangiectasia (AT) is a genetic recessive disorder involving a large range of symptoms including telangiectasia (dilation of blood vessels) on the eyes, face, and shoulders, ataxia (loss of balance), cerebellar degeneration, radiosensitivity, cancer predisposition, immunodeficiency and premature aging. At a cellular level, AT cells display cell cycle checkpoint defects, chromosomal instability and sensitivity to ionizing radiation. The protein mutated in AT is ATM (Ataxia Telangiectasia -Mutated), a large protein of 370 kDa that is involved in DNA repair.
DESCRIPTION: Researchers at the University of California have identified a large number of mutations in the ATM gene. They have further developed PCR-based diagnostic methods to identify the presence of an ATM gene mutation in a patient.
* Provides an important diagnostic tool for AT.
* Provides the basis for study of the role of heterozygosity of AT gene mutation in diseases such as breast cancer.
* Diagnosis of AT through identification of mutations in the ATM gene.
* Development of a mouse model for AT using ATM gene mutations.
* Treatment of AT using gene therapy.
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