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

L. R. Griffiths*, M. B. Zwi, J. G. McLeod, D. A. Ross, G. A. Nicholson

*Corresponding author for this work

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Abstract

Charcot-Marie-Tooth neuropathy type 1 (CMT1) is an auto-somal 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 CMTl 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 Due. 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-Due-linked CMTl pedigree to two chromosome 19 markers, we did not detect significant linkage of ApoC2 to CMTl in these families.

Original languageEnglish
Pages (from-to)280-281
Number of pages2
JournalNeurology
Volume39
Issue number2
Publication statusPublished - 1989
Externally publishedYes

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    Griffiths, L. 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), 280-281.