Detection of ATM Mutations and Polymorphisms with MEGA-SSCP
BACKGROUND: Ataxia telangiectasia is an autosomal recessive disorder characterized by progressive cerebellar degeneration, immunodeficiency, growth retardation, premature aging, chromosomal instability, acute sensitivity to ionizing radiation, and a predisposition to cancer, particularly breast cancer. It is caused by mutations in the ATM gene which lead to defects in the DNA repair process and cell cycle control. Given the severity of the disease, there is a need for efficient and accurate diagnosis. However, current methods of mutation screening are cumbersome when applied to large genes, such as the ATM gene.
DESCRIPTION: Scientists at the University of California have used a new technique, mega-SSCP (single-strand conformation polymorphism), to identify previously unknown mutations and polymorphisms in the ATM gene. In the method, nucleic acid segments are amplified, and the products are analyzed by gel electrophoresis. In an improvement over the usual SSCP procedure, certain amplicons can be run concurrently on a smaller number of gels.
* The mutations and variants identified are essential for ataxia telangiectasia screening.
* This information is needed to design DNA chips for automated screening, and to interpret the data obtained, as it eliminates false positives and differentiates disease-causing mutations from normal variations.
* Mega-SSCP detects mutations and polymorphisms in any gene, for example, APC (colon cancer), BRCA1 and 2 (breast cancer), CFTR (cystic fibrosis), HBB (?-thalassemia), and APOE (atherosclerosis).
* Mega-SSCP may be used for genetic counseling, prenatal testing, and carrier detection.
* Mega-SSCP is a novel, efficient, and accurate method for screening large genes for mutations and polymorphisms.
* The method can be carried out with typical laboratory equipment, without the need to purchase additional expensive equipment.
* It detects mutations missed by other screening techniques.
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