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NEUROLOGY 1987;37:325
© 1987 American Academy of Neurology

Genetic linkage relationships of Charcot-Marie-Tooth disease (HMSN-Ib) to chromosome 1 markers

Phillip F. Chance, MD, Jeffrey C. Murray, MD, Thomas D. Bird, MD and Rochelle S. Kochin, MS

Department of Medicine, Divisions of Neurology (Drs. Chance and Bird), and Medical Genetics (Drs. Chance, Murray, and Bird, and Ms. Kochin), University of Washington School of Medicine, VA Medical Center (Dr. Bird), and Children's Orthopedic Hospital and Medical Center (Dr. Chance), Seattle, WA.

Hereditary motor and sensory neuropathy-Ib (HMSN-Ib) is a common autosomal dominant disorder linked to the Duffy blood group locus on human chromosome 1. The gene for antithrombin III (AT3) is also located on the long arm of chromosome 1. Using a DNA restriction fragment length polymorphism for AT3, we have investigated the genetic linkage relationship of all three markers (HMSN-Ib, Duffy, and AT3) in two affected families. Neither HMSN-Ib nor Duffy was tightly linked to AT3. The loci for both HMSN-Ib and Duffy must be close to the centromere on chromosome 1, but precise localization and gene order require study of additional markers and more families.

Address correspondence and reprint requests to Dr. Bird, Neurology, VA Medical Center, 1660 South Columbian Way, Seattle, WA 98108.

Received February 28, 1986. Accepted for publication June 6, 1986.

Presented in part at the thirty-seventh annual meeting of the American Academy of Neurology, Dallas, TX, April 1985.

Supported by Grants GM 07454 and GM 15253, and Veterans Administration Medical Research funds.






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