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

Griffiths, Lyn R., Zwi, M. B., McLeod, J. G., & Nicholson, G. A. (1988) Chromosome I linkage studies in Charcot-Marie-Tooth neuropathy type I. American Journal of Human Genetics, 42(5), pp. 756-771.

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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.

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26 citations in Scopus
38 citations in Web of Science®
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ID Code: 63014
Item Type: Journal Article
Refereed: Yes
Keywords: case study, chromosome 1, clinical article, family study, female, gene location, genetic engineering, genetic linkage, hereditary motor sensory neuropathy, hereditary motor sensory neuropathy type 1, heredity, human, male, neuropathy, priority journal, Charcot-Marie-Tooth Disease, Chromosome Mapping, Chromosomes, Human, Pair 1, DNA, Female, Genotype, Human, Leukocytes, Linkage (Genetics), Male, Muscular Atrophy, Spinal, Nucleic Acid Hybridization, Pedigree, Peripheral Nervous System Diseases, Polymorphism, Restriction Fragment Length, Support, Non-U.S. Gov't
ISSN: 1537-6605
Divisions: Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 1988 Cell Press
Deposited On: 27 Sep 2013 07:32
Last Modified: 19 Jul 2017 11:01

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