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NEUROLOGY 1990;40:1450
© 1990 American Academy of Neurology

Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17

J. C. Defesche, MS, J. E. Hoogendijk, MD, M. de Visser, MD, PhD, B. W. Ongerboer de Visser, MD, PhD and P. A. Bolhuis, PhD

From the Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.

Hereditary motor and sensory neuropathy type 1 (HMSN I) is an autosomal dominant disorder genetically localized on chromosome 1 in a few families and on chromosome 17 in other families. We analyzed linkage between 6 markers of chromosome 1, 2 markers of chromosome 17, and the HMSN I locus using restriction fragment length polymorphisms and serotyping for the Duffy blood group in 5 families with HMSN I. Only in 1 of these families is linkage present between the disease locus and the loci for Duffy blood group and glucocerebrosidase (chromosome 1 markers). In the 4 other families the HMSN I locus is linked to the chromosome 17 markers pEW301 and pA10–41.

Address correspondence and reprint requests to Dr. J.C. Defesche, Dept. of Haematology G1-113, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

Supported by the Foundation for Clinical Genetics, Amsterdam, and the Prinaes Beatrix Fonds, The Hague, The Netherlandbt.

Received November 7, 1989. Accepted for publication in final form February 16, 1990.




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