Abstract
The gene for Charcot-Marie-Tooth disease type 1a (CMT1a) has been localised to chromosome 17p11.2. Locus D17S122 is recognised by the DNA probe pVAW409R3 which detects an MspI polymorphism with three alleles in the normal population. Subjects with CMT1a show evidence of trisomy for this region of chromosome 17 by displaying either all three alleles or a dosage effect when only two alleles are present. This phenomenon was seen in 10 out of 11 families with type I hereditary motor and sensory neuropathy (HMSN) where affected subjects were heterozygous for the MspI polymorphisms. This mutation is likely to have arisen from a non-reciprocal recombination event between non-sister chromatids of homologous chromosomes at meiosis I. The detection of this partial trisomy offers a rapid method for the diagnosis of CMT1a in families not suitable for linkage analysis.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Bird T. D. Hereditary motor-sensory neuropathies. Charcot-Marie-Tooth syndrome. Neurol Clin. 1989 Feb;7(1):9–23. [PubMed] [Google Scholar]
- Bird T. D., Ott J., Giblett E. R. Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet. 1982 May;34(3):388–394. [PMC free article] [PubMed] [Google Scholar]
- Feinberg A. P., Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem. 1983 Jul 1;132(1):6–13. doi: 10.1016/0003-2697(83)90418-9. [DOI] [PubMed] [Google Scholar]
- MacMillan J. C., Harper P. S. Single-gene neurological disorders in South Wales: an epidemiological study. Ann Neurol. 1991 Sep;30(3):411–414. doi: 10.1002/ana.410300314. [DOI] [PubMed] [Google Scholar]
- Raeymaekers P., Timmerman V., Nelis E., De Jonghe P., Hoogendijk J. E., Baas F., Barker D. F., Martin J. J., De Visser M., Bolhuis P. A. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord. 1991;1(2):93–97. doi: 10.1016/0960-8966(91)90055-w. [DOI] [PubMed] [Google Scholar]
- Vance J. M. Hereditary motor and sensory neuropathies. J Med Genet. 1991 Jan;28(1):1–5. doi: 10.1136/jmg.28.1.1. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Vance J. M., Nicholson G. A., Yamaoka L. H., Stajich J., Stewart C. S., Speer M. C., Hung W. Y., Roses A. D., Barker D., Pericak-Vance M. A. Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. Exp Neurol. 1989 May;104(2):186–189. doi: 10.1016/s0014-4886(89)80013-5. [DOI] [PubMed] [Google Scholar]
- Wright E. C., Goldgar D. E., Fain P. R., Barker D. F., Skolnick M. H. A genetic map of human chromosome 17p. Genomics. 1990 May;7(1):103–109. doi: 10.1016/0888-7543(90)90524-x. [DOI] [PubMed] [Google Scholar]