PHYSICAL AND GENETIC-MAPPING OF THE CMT4A LOCUS AND EXCLUSION OF PMP-2 AS THE DEFECT IN CMT4A

We have previously localized one form of the autosomal recessive Charc ot-Marie-Tooth disease type 4 (CMT4A) to a 5-cM region of chromosome 8 q13-q21. We now report the formation of a 7-Mb YAC contig spanning the region. This contig was used to map nine additional microsatellites a nd six STSs to this region, and subsequent haplotype analysis has narr owed the CMT4A flanking interval to less than 1 cM. In addition, using SSCP and our physical map, we have demonstrated that the myelin prote in PMP-S, mapped by FISH to this region, is not the defect in CMT4A (C ). 1995 Academic Press.