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RAPID GENETIC SCREENING NOW POSSIBLE FOR POPULATIONS AT RISK FOR ATAXIA-TELANGIECTASIA
Researchers at the UCLA School of Medicine and colleagues have announced that, using new information about the A-T gene and its common mutations, they have developed several rapid assays to identify carriers of the genetic defect responsible for causing ataxia-telangiectasia (A-T) in particular ethnic populations. The test procedures require only a small amount of DNA material and can be used to screen large numbers of individuals. Results of the study were presented at the American Pediatric Society on May 3.
A-T, a progressive and ultimately fatal neurodegenerative disease, occurs in 1 in 40,000. It strikes children between the ages of one and two, initially causing loss of balance and ultimately confining its victims to wheelchairs. A-T patients usually develop severe infectionsor malignant cancers and normally live only into their 20s.
"One of the difficulties in developing methods of genetic screening for this condition is the wide number of mutations or genetic variations that exist among carriers," said Dr. Richard Gatti, professor of pathology and laboratory medicine at the UCLA School of Medicine and a member of the Jonsson Comprehensive Cancer Center at UCLA. "For population groups about which we have some background knowledge regarding expected genetic variations, including Amish, Costa Rican, Polish, Norwegian, Moroccan, Japanese, Jewish, and Italian groups, we can now screen for the condition quickly and accurately."
For those who may have a family history of A-T, but who are not members of identified ethnic groups, a less direct method of genetic screening may still enable physicians to provide prenatal counseling and diagnosis.
The A-T gene was located and cloned by an international consortium including Gatti and colleagues at UCLA, Tel Aviv University and the University of Birmingham, England, in 1995. The gene has also been associated with more widespread disease. Those who carry the gene but do not have A-T are five times more likely to develop cancer than non-carriers.
"The ability to screen for this gene will help us identify people who are at significantly increased risk of developing cancer, in addition to counseling potential parents with a family history of A-T," said Gatti. "But we are only beginning to understand the importance of this gene and the extent of its role in the body. Those who are carriers may have additional health concerns that need careful monitoring. These new assays will help physicians improve long-term health coutcomes for many patients."
-UCLA-
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