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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1986 Dec;23(6):596–598. doi: 10.1136/jmg.23.6.596

Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome.

N S Thomas, H Williams, L J Elsas, L C Hopkins, M Sarfarazi, P S Harper
PMCID: PMC1049843  PMID: 3100805

Abstract

The linkage relationships of the gene for Emery-Dreifuss muscular dystrophy have been analysed in a large American kindred using DNA probes from different regions of the X chromosome. Close linkage was found with the locus for factor VIII, with no recombinants in 12 opportunities (maximum lod score 4.3), and with locus DXS15 (two recombinants in 17 opportunities, maximum lod score 2.9 at 0 = 10 cM). No linkage was found with probes pERT87 and 754, which are closely linked to Duchenne and Becker muscular dystrophies at Xp21. These results confirm a separate localisation on the distal part of the long arm at q27-28 for Emery-Dreifuss muscular dystrophy and should provide the basis for prenatal diagnosis and improved carrier detection in this disorder if the linkage is confirmed to be close.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Brown C. S., Thomas N. S., Sarfarazi M., Davies K. E., Kunkel L., Pearson P. L., Kingston H. M., Shaw D. J., Harper P. S. Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy. Hum Genet. 1985;71(1):62–74. doi: 10.1007/BF00295671. [DOI] [PubMed] [Google Scholar]
  2. DREIFUSS F. E., HOGAN G. R. Survival in x-chromosomal muscular dystrophy. Neurology. 1961 Aug;11:734–737. doi: 10.1212/wnl.11.8.734. [DOI] [PubMed] [Google Scholar]
  3. Emery A. E., Dreifuss F. E. Unusual type of benign x-linked muscular dystrophy. J Neurol Neurosurg Psychiatry. 1966 Aug;29(4):338–342. doi: 10.1136/jnnp.29.4.338. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Hopkins L. C., Jackson J. A., Elsas L. J. Emery-dreifuss humeroperoneal muscular dystrophy: an x-linked myopathy with unusual contractures and bradycardia. Ann Neurol. 1981 Sep;10(3):230–237. doi: 10.1002/ana.410100306. [DOI] [PubMed] [Google Scholar]
  5. Kingston H. M., Thomas N. S., Pearson P. L., Sarfarazi M., Harper P. S. Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome. J Med Genet. 1983 Aug;20(4):255–258. doi: 10.1136/jmg.20.4.255. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Kunkel L. M., Smith K. D., Boyer S. H., Borgaonkar D. S., Wachtel S. S., Miller O. J., Breg W. R., Jones H. W., Jr, Rary J. M. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A. 1977 Mar;74(3):1245–1249. doi: 10.1073/pnas.74.3.1245. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Ott J. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet. 1974 Sep;26(5):588–597. [PMC free article] [PubMed] [Google Scholar]
  8. Skinner R., Smith C., Emery A. E. Linkage between the loci for benign (Becker-type) X-borne muscular dystrophy and deutan colour blindness. J Med Genet. 1974 Dec;11(4):317–320. doi: 10.1136/jmg.11.4.317. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Wright M. L., Elsas L. J., 2nd Application of benefit-to-cost analysis to an X-linked recessive cardiac and humeroperoneal neuromuscular disease. Am J Med Genet. 1980;6(4):315–329. doi: 10.1002/ajmg.1320060409. [DOI] [PubMed] [Google Scholar]

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