K. Benothmane et al., PHYSICAL AND GENETIC-MAPPING OF THE CMT4A LOCUS AND EXCLUSION OF PMP-2 AS THE DEFECT IN CMT4A, Genomics, 28(2), 1995, pp. 286-290
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.