Heterogeneity evidence and linkage studies on Charcot-Marie-Tooth disease

Griffiths, Lyn R., Zwi, M. B., McLeod, J. G., Ross, D. A., & Nicholson, G. A. (1989) Heterogeneity evidence and linkage studies on Charcot-Marie-Tooth disease. Neurology, 39(2 I), pp. 280-281.

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Charcot-Marie-Tooth neuropathy type 1 (CMT1) is an autosomal dominant disorder originally localized to chromosome 1 by linkage to the Duffy blood group. Studies have since shown that the disorder may be heterogeneous, as not all families show this linkage. We tested genetic heterogeneity by the HOMOG computer program in 15 CMT1 pedigrees informative for Duffy. We detected no evidence for heterogeneity in this sample, but when we combined results with previously published lod scores, heterogeneity was statistically significant. Twelve of the 15 families studied did not show linkage to Duffy. We found six of these families to be informative for a chromosome 19 marker, apolipoprotein CII(ApoC2). Despite a previous report showing probable linkage of a non-Duffy-linked CMT1 pedigree to two chromosome 19 markers, we did not detect significant linkage of ApoC2 to CMT1 in these families.

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ID Code: 63015
Item Type: Journal Article
Refereed: Yes
Additional Information: 2915802
Keywords: adult, clinical article, female, hereditary motor sensory neuropathy, heredity, human, male, priority journal, Apolipoproteins C, Charcot-Marie-Tooth Disease, Duffy Blood-Group System, Human, Linkage (Genetics), Muscular Atrophy, Spinal, Software, Support, Non-U.S. Gov't, Variation (Genetics)
ISSN: 0028-3878
Divisions: Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 1989 Lippincott Williams & Wilkins
Deposited On: 27 Sep 2013 07:37
Last Modified: 27 Sep 2013 07:37

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