Author(s): Kennerson ML, Zhu D, Gardner RJ, Storey E, Merory J, , Kennerson ML, Zhu D, Gardner RJ, Storey E, Merory J, , Kennerson ML, Zhu D, Gardner RJ, Storey E, Merory J, , Kennerson ML, Zhu D, Gardner RJ, Storey E, Merory J,
Abstract Share this page
Abstract The hereditary disorders of peripheral nerve form one of the most common groups of human genetic diseases, collectively called Charcot-Marie-Tooth (CMT) neuropathy. Using linkage analysis we have identified a new locus for a form of CMT that we have called "dominant intermediate CMT" (DI-CMT). A genomewide screen using 383 microsatellite markers showed strong linkage to the short arm of chromosome 19 (maximum LOD score 4.3, with a recombination fraction (straight theta) of 0, at D19S221 and maximum LOD score 5.28, straight theta=0, at D19S226). Haplotype analysis performed with 14 additional markers placed the DI-CMT locus within a 16.8-cM region flanked by the markers D19S586 and D19S546. Multipoint linkage analysis suggested the most likely location at D19S226 (maximum multipoint LOD score 6.77), within a 10-cM confidence interval. This study establishes the presence of a locus for DI-CMT on chromosome 19p12-p13.2.
This article was published in Am J Hum Genet
and referenced in Journal of Molecular Biomarkers & Diagnosis