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New technique improves accuracy of gene tests

COLUMBUS, Ohio - Researchers have developed a new technique that promises to significantly improve the accuracy of genetic testing for cancer and many other diseases. The process, published in the journal Nature, could significantly improve the diagnosis of mutations responsible for most hereditary cancers, such as retinoblastoma, hereditary breast cancer, and hereditary colon cancer.

It could also be important for helping to determine whether a mother carries a gene mutation on one of her X-chromosomes that could cause a disease on one of her sons. Such so-called "X-linked" disorders include hemophilia and Duchenne's muscular dystrophy.

"Detecting X-linked mutations in females is a diagnostic nightmare that people who do genetic testing wrestle with almost daily," said Albert de la Chapelle, director of the Human Cancer Genetics Program at Ohio State University's Comprehensive Cancer Center.

The technique involves separating pairs of human chromosomes and dispersing them into different mouse cells.

For the present study, the researchers applied the new technique to 10 individuals suspected of having hereditary nonpolyposis colon cancer (HNPCC), one of the most frequent forms of hereditary colon cancer.

All 10 people had a family history of HNPCC and showed other criteria supporting a HNPCC diagnosis, but conventional genetic testing revealed no HNPCC-linked mutation in any of them.


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Contact: Albert de la Chapelle
delachapelle-1@medctr.osu.edu
614-688-4781
Ohio State University
2-Mar-2000


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