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Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees

Additional evidence for a third autosomal CMT1 locus

Division of Medical Genetics (Dr. Chance, W. Lensch, and B. Smith) and Howard Hughes Medical Institute (Dr. Matsunami), University of Utah, College of Medicine, Salt Lake City, UT; and the Veterans Administration Medical Center (Dr. Bird) and Division of Neurology, University of Washington, School of Medicine, Seattle, WA.

We have restudied two clinically typical Charcot-Marie-Tooth neuropathy type 1 (CMT1; also known as hereditary motor and sensory neuropathy 1) pedigrees that were previously reported to be unlinked to the regions of proximal chromosome 1q and chromosome 17p by multipoint linkage analyses. In these two pedigrees, there is no evidence for linkage to additional DNA markers that flank and span the CMT1A locus on chromosome 17p 11.2, and a duplication associated with CMT1A is not present in these pedigrees. These findings confirm that the CMT1 locus in these two pedigrees does not map to chromosome 17p11.2 or 1q, and provide further evidence for the existence of a third autosomal locus for CMT1.

Address correspondence and reprint requests to Dr. Phillip F. Chance, Division of Medical Genetics, 413 Medical Education Building, University of' Utah Medical Center, Salt Lake City, UT 84132.

P.F.C. receives funds from the Muscular Dystrophy Association, the March of Dimes (Basil O'Connor Starter Scholar Research Award, 5–667), and a Clinical Investigator Development Award (NINDS) NS01341. T.D.B. is supported by funds from the Veterans Administration.

Received January 29, 1992. Accepted for publication in final form March 11, 1992

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