Chromosome I linkage studies in Charcot-Marie-Tooth neuropathy type I

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

Research output: Contribution to journalArticlepeer-review

30 Citations (Scopus)


Charcot-Marie-Tooth neuropathy type 1 (CMT1) is an autosomal dominant disorder of peripheral nerve. The gene for CMT1 was originally localized to chromosome 1 by linkage to the Duffy blood group, but it has since been shown that not all CMT1 pedigrees show this linkage. We report here the results of linkage studies using five chromosome 1 markers - Duffy (Fy), antithrombin III (AT3), renin (REN), β-nerve growth factor (NGFB), and salivary amylase (AMY1) - in 16 CMT1 pedigrees. The total lod scores exclude close linkage of CMT1 to any of these markers. However, individual families show probable linkage of CMT1 to Duffy, AT3, and/or AMY1. No linkage was indicated with REN or NGFB. These results indicate that possible location of a CMT1 gene between the AMY1 and AT3 loci at p21 and q23, respectively, on chromosome 1 and support the theory that there is at least one other CMT1 gene.

Original languageEnglish
Pages (from-to)756-771
Number of pages16
JournalAmerican Journal of Human Genetics
Issue number5
Publication statusPublished - 1988
Externally publishedYes


Dive into the research topics of 'Chromosome I linkage studies in Charcot-Marie-Tooth neuropathy type I'. Together they form a unique fingerprint.

Cite this