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Gene search narrows.

Gene search narrows

Joseph Merrick, the 19th-centuryLondoner better know as the "Elephant Man,' may be remembered by medical historians and theatergoers as the unlucky victim of an unusual deformity. But the disease from which he suffered--von Recklinghausen neurofibromatosis (NF)--remains one of the world's most common genetic disorders, afflicting roughly one in 3,000 people, including an estimated 100,000 in the United States. Although few victims develop the severe disfigurement that Merrick did, a variety of bone and central nervous system complications are commonly associated with the ailment, and until recently, scientists knew little about its etiology.

Now, two teams of scientists haveidentified the approximate location of the gene apparently responsible for NF, spurring hope that early detection and treatment of the disease may be possible in coming years. Moreover, their research suggests that although it can manifest itself in a number of ways--ranging from minor skin discoloration to solid tumor malignancy--the disease is probably the result of a defect or defects in a single gene. That finding, along with the fact that about half of all NF cases are the result of new mutations found in offspring of genetically normal parents, has led some of the scientists to theorize that the gene may be unusually large, and therefore susceptible to more mutations.

Research teams from the Universityof Utah in Salt Lake City and Massachusetts General Hospital and Harvard Medical School in Boston report in the May 29 SCIENCE and the June 5 CELL, respectively, that they have narrowed the location of the NF gene to a region close to the central constriction of chromosome 17. Working independently, the two groups traced previously mapped genetic markers that are typically inherited along with the disease--a technique that has been used to pinpoint the genes responsible for cystic fibrosis and muscular dystrophy, making possible the development of prenatal tests for such defects.
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Title Annotation:research on location of gene that causes neurofibromatosis
Author:Weiss, Rick
Publication:Science News
Date:Jun 6, 1987
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