Word: gusella
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...James F. Gusella, professor of genetics at the Medical School, reports in an article in today's issue of Nature Genetics, a British scientific journal, that he and co-workers at the Massachusetts General Hospital have discovered a gene coding for a defect which may be responsible for the disease...
Since 1983, when Gusella first determined that the gene for Huntington's was located on the tip of the short arm of chromosome four, scientists have been engaged in a quest to define the exact nature of the biochemical abnormality, thought to be a defective protein or enzyme, which is responsible for its symptoms...
...paper published last April, Gusella andhis colleagues demonstrated that 30 to 40 percentof DNA collected from Huntington's diseasepatients and their families share a short segmentof approximately 500,000 base pairs on thechromosome...
...skin biopsies (soon found to be unnecessary) and blood samples were sent, along with pedigree data, to James Gusella, a young Canadian scientist working at Massachusetts General Hospital. Using a new technique, he was able to locate a DNA marker close to the Huntington's gene. It lay toward the tip of the short arm of chromosome 4. That discovery led to the development of a test, now 96% accurate, that can determine the presence of the errant gene long before any symptoms show...
...search coordinated by Wexler's foundation, geneticist James Gusella of Massachusetts General Hospital discovered a particular piece of DNA, called a genetic marker, that seemed to be present in people suffering from Huntington's disease. His evidence suggested that the marker must be near the Huntington's disease gene on the same chromosome, but he needed a larger sample to confirm his findings. This was provided by Wexler, who had previously traveled to Venezuela to chart the family tree of a clan of some 5,000 people, all of them descendants of a woman who died of Huntington's $ disease...