Linkage localization of X-linked Charcot-Marie-Tooth disease
- Children's Hospital, Philadelphia, PA (United States) Univ. of Pennsylvania, Philadelphia (United States)
- Massachusetts General Hospital, Boston (United States)
- Duke Univ., Durham, NC (United States)
- Univ. of Utah, Salt Lake City (United States)
- Univ. of Pennsylvania, Philadelphia (United States)
Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy, is a heterogeneous group of slowly progressive, degenerative disorders of peripheral nerve. X-linked CMT (CMTX) (McKusick 302800), a subdivision of type I, or demyelinating, CMT is an X-linked dominant condition with variable penetrance. Previous linkage analysis using RFLPs demonstrated linkage to markers on the proximal long and short arms of the X chromosome, with the more likely localization on the proximal long arm of the X chromosome. Available variable simple-sequence repeats (VSSRs) broaden the possibilities for linkage analysis. This paper presents new linkage data and recombination analysis derived from work with four VSSR markers - AR, PGKP1, DXS453, and DXYS1X - in addition to analysis using RFLP markers described elsewhere. These studies localize the CMTX gene to the proximal Xq segment between PGKP1 (Xq11.2-12) and DXS72 (Xq21.1), with a combined maximum multipoint lod score of 15.3 at DXS453 ([theta] = 0). 32 refs., 3 figs., 2 tabs.
- OSTI ID:
- 6572733
- Journal Information:
- American Journal of Human Genetics; (United States), Vol. 52:2; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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