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 Charcot-Marie-Tooth disease type 4 (CMT4A) to a 5-cM region of chromosome 8q13-q21. We now report the formation of a 7-Mb YAC contig spanning the region. This contig was used to map nine additional microsatellites and six STSs to this region, and subsequent haplotype analysis has narrowed the CMT4A flanking interval to less than 1 cM. In addition, using SSCP and our physical map, we have demonstrated that the myelin protein PMP-2, mapped by FISH to this region, is not the defect in CMT4A.
Division of Neurology, Duke University Medical Center, Durham, North Carolina 27710, USA.
K B
KB
Othmane
D
D
Loeb
R
R
Hayworth-Hodgte
F
F
Hentati
N
N
Rao
A D
AD
Roses
M
M
Ben Hamida
M A
MA
Pericak-Vance
J M
JM
Vance
D048868:Adaptor Proteins, Signal Transducing; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002898:Chromosomes, Human, Pair 8; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008565:Membrane Proteins; D062806:Myelin and Lymphocyte-Associated Proteolipid Proteins; D009419:Nerve Tissue Proteins; D009431:Neural Conduction; D018807:Polymorphism, Single-Stranded Conformational; D011510:Proteolipids / Q000235:genetics*; D029701:Saccharomyces cerevisiae Proteins
D048868:Adaptor Proteins, Signal Transducing; D008565:Membrane Proteins; D062806:Myelin and Lymphocyte-Associated Proteolipid Proteins; D009419:Nerve Tissue Proteins; C048897:PLLP protein, human; C489078:PMP2 protein, S cerevisiae; D011510:Proteolipids; D029701:Saccharomyces cerevisiae Proteins