Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A.
Publication
, Journal Article
Othmane, KB; Loeb, D; Hayworth-Hodgte, R; Hentati, F; Rao, N; Roses, AD; Ben Hamida, M; Pericak-Vance, MA; Vance, JM
Published in: Genomics
July 20, 1995
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.
Duke Scholars
Published In
Genomics
DOI
ISSN
0888-7543
Publication Date
July 20, 1995
Volume
28
Issue
2
Start / End Page
286 / 290
Location
United States
Related Subject Headings
- Saccharomyces cerevisiae Proteins
- Proteolipids
- Polymorphism, Single-Stranded Conformational
- Neural Conduction
- Nerve Tissue Proteins
- Myelin and Lymphocyte-Associated Proteolipid Proteins
- Membrane Proteins
- Male
- In Situ Hybridization, Fluorescence
- Humans
Citation
APA
Chicago
ICMJE
MLA
NLM
Othmane, K. B., Loeb, D., Hayworth-Hodgte, R., Hentati, F., Rao, N., Roses, A. D., … Vance, J. M. (1995). Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A. Genomics, 28(2), 286–290. https://doi.org/10.1006/geno.1995.1143
Othmane, K. B., D. Loeb, R. Hayworth-Hodgte, F. Hentati, N. Rao, A. D. Roses, M. Ben Hamida, M. A. Pericak-Vance, and J. M. Vance. “Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A.” Genomics 28, no. 2 (July 20, 1995): 286–90. https://doi.org/10.1006/geno.1995.1143.
Othmane KB, Loeb D, Hayworth-Hodgte R, Hentati F, Rao N, Roses AD, et al. Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A. Genomics. 1995 Jul 20;28(2):286–90.
Othmane, K. B., et al. “Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A.” Genomics, vol. 28, no. 2, July 1995, pp. 286–90. Pubmed, doi:10.1006/geno.1995.1143.
Othmane KB, Loeb D, Hayworth-Hodgte R, Hentati F, Rao N, Roses AD, Ben Hamida M, Pericak-Vance MA, Vance JM. Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A. Genomics. 1995 Jul 20;28(2):286–290.
Published In
Genomics
DOI
ISSN
0888-7543
Publication Date
July 20, 1995
Volume
28
Issue
2
Start / End Page
286 / 290
Location
United States
Related Subject Headings
- Saccharomyces cerevisiae Proteins
- Proteolipids
- Polymorphism, Single-Stranded Conformational
- Neural Conduction
- Nerve Tissue Proteins
- Myelin and Lymphocyte-Associated Proteolipid Proteins
- Membrane Proteins
- Male
- In Situ Hybridization, Fluorescence
- Humans