Abstract
A number of DNA probes from the short arm of the X chromosome have been used to study the inheritance of the translocation chromosomes in a girl with an X; autosome translocation and muscular dystrophy. The two translocation chromosomes were found to be derived from the father's single normal X chromosome, ruling out maternal inheritance of a pre-existent mutation and enhancing the concept that the de novo translocation is responsible for the dystrophic phenotype.
Full text
PDFImages in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Aldridge J., Kunkel L., Bruns G., Tantravahi U., Lalande M., Brewster T., Moreau E., Wilson M., Bromley W., Roderick T. A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet. 1984 May;36(3):546–564. [PMC free article] [PubMed] [Google Scholar]
- Boyd Y., Buckle V. J. Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy. Clin Genet. 1986 Feb;29(2):108–115. doi: 10.1111/j.1399-0004.1986.tb01232.x. [DOI] [PubMed] [Google Scholar]
- Emanuel B. S., Zackai E. H., Tucker S. H. Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD. J Med Genet. 1983 Dec;20(6):461–463. doi: 10.1136/jmg.20.6.461. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hofker M. H., Wapenaar M. C., Goor N., Bakker E., van Ommen G. J., Pearson P. L. Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy. Hum Genet. 1985;70(2):148–156. doi: 10.1007/BF00273073. [DOI] [PubMed] [Google Scholar]
- Horwich A. L., Fenton W. A., Williams K. R., Kalousek F., Kraus J. P., Doolittle R. F., Konigsberg W., Rosenberg L. E. Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase. Science. 1984 Jun 8;224(4653):1068–1074. doi: 10.1126/science.6372096. [DOI] [PubMed] [Google Scholar]
- Jacobs P. A., Hunt P. A., Mayer M., Bart R. D. Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21. Am J Hum Genet. 1981 Jul;33(4):513–518. [PMC free article] [PubMed] [Google Scholar]
- Lindenbaum R. H., Clarke G., Patel C., Moncrieff M., Hughes J. T. Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. J Med Genet. 1979 Oct;16(5):389–392. doi: 10.1136/jmg.16.5.389. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Monaco A. P., Bertelson C. J., Middlesworth W., Colletti C. A., Aldridge J., Fischbeck K. H., Bartlett R., Pericak-Vance M. A., Roses A. D., Kunkel L. M. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. 1985 Aug 29-Sep 4Nature. 316(6031):842–845. doi: 10.1038/316842a0. [DOI] [PubMed] [Google Scholar]
- Ray P. N., Belfall B., Duff C., Logan C., Kean V., Thompson M. W., Sylvester J. E., Gorski J. L., Schmickel R. D., Worton R. G. Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Nature. 1985 Dec 19;318(6047):672–675. doi: 10.1038/318672a0. [DOI] [PubMed] [Google Scholar]
- Verellen-Dumoulin C., Freund M., De Meyer R., Laterre C., Frédéric J., Thompson M. W., Markovic V. D., Worton R. G. Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome. Hum Genet. 1984;67(1):115–119. doi: 10.1007/BF00270570. [DOI] [PubMed] [Google Scholar]
- Worton R. G., Duff C., Sylvester J. E., Schmickel R. D., Willard H. F. Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes. Science. 1984 Jun 29;224(4656):1447–1449. doi: 10.1126/science.6729462. [DOI] [PubMed] [Google Scholar]
- Zatz M., Vianna-Morgante A. M., Campos P., Diament A. J. Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus. J Med Genet. 1981 Dec;18(6):442–447. doi: 10.1136/jmg.18.6.442. [DOI] [PMC free article] [PubMed] [Google Scholar]