Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A

K. Ben Othmane; D. Loeb; R. Hayworth-Hodgte; F. Hentati; N. Rao; A. D. Roses; M. Ben Hamida; M. A. Pericak-Vance; J. M. Vance

doi:10.1006/geno.1995.1143

Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A

K. Ben Othmane, D. Loeb, R. Hayworth-Hodgte, F. Hentati, N. Rao, A. D. Roses, M. Ben Hamida, M. A. Pericak-Vance, J. M. Vance

Research output: Contribution to journal › Article › peer-review

30 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	286-290
Number of pages	5
Journal	Genomics
Volume	28
Issue number	2
DOIs	https://doi.org/10.1006/geno.1995.1143
State	Published - Jul 20 1995
Externally published	Yes

ASJC Scopus subject areas

Genetics

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title = "Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A",

abstract = "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.",

author = "Othmane, {K. Ben} and D. Loeb and R. Hayworth-Hodgte and F. Hentati and N. Rao and Roses, {A. D.} and Hamida, {M. Ben} and Pericak-Vance, {M. A.} and Vance, {J. M.}",

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AU - Othmane, K. Ben

AU - Loeb, D.

AU - Hayworth-Hodgte, R.

AU - Hentati, F.

AU - Rao, N.

AU - Roses, A. D.

AU - Hamida, M. Ben

AU - Pericak-Vance, M. A.

AU - Vance, J. M.

PY - 1995/7/20

Y1 - 1995/7/20

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