Abstract
Progressive muscle wasting, which leads to severe disability and early death, make Duchenne and Becker muscular dystrophies (DMD/BMD) highly distressing disorders to both patient and family. Diagnosis in pregnancy, therefore, is frequently considered by couples in which the woman has a family history of either disorder. However, prenatal diagnosis is not always straightforward. It is frequently complicated by the high new mutation rate associated with the dystrophin gene, and, related to this, the high incidence of mosaicism in the germline. In addition, family structure is not always ideal, because samples from vital members may be unavailable.
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References
Lo, Y.M.D. (1994) Noninvasive prenatal diagnosis using fetal cells in maternal blood. J. Clin. Pathol. 47, 1060–1065.
Simpson, J.L. and Elias, S. (1993) Isolating fetal cells from maternal blood: advances in prenatal dignosis through molecular technology. JAMA 270, 2357–2361.
Handyside, A. H. (1993) Diagnosis of inherited disease before implantation Reprod. Med. Rev. 2, 51–61.
Ellis, N., Taylor, A., Bengtsson, B. O., Kidd, J., Rogers, J., and Goodfellow, P. (1990) Population structure of the pseudoautosomal boundary. Nature 344, 663–665.
Hentemann, M., Reiss, J., Wagner, M., and Cooper, D. N. (1990) Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences.Hum. Genet. 84, 228–232.
Koenig, M., Monaco, A.P., and Kunkel, L. M. (1988) The complete sequence of dysrophin predicts a rod-shaped cytoskeletal protein.Cell 53 219–228.
Roberts, R. G., Coffey, A. J., Bobrow, M., and Bentley, D. R. (1993) Exon structure of the human dystrophin gene. Genomics 16, 536–538.
Forest, S., Cross, G. S., Speer, A., Gargner-Medwin, D., Burn, J., and Davies, K. E. (1987) Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature 329 638–640.
DenDunnen, J.T., Grootscholten, P. M., Bakker, E., Blonden, L. A., Ginjaar, H. B., Wapenaar, M.C., et al. (1989) Topography of the DMD gene, FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J. Hum. Genet. 45 835–847.
Bushby, K. M. D., Gardner-Medwin, D., Nicholson, L. V. B., Johnson, M. A., Haggerty, I.D., Cleghorn, N. J., Harris, J.B., and Bhattacharya, S. S. (1993) The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities. J. Neurol. 240, 105–112.
Abbs, S., Roberts, R. G., Mathew, C. G., Bentley, D.R., and Bobrow, M. (1990) Accurate assessment of the intragenic recombination frequency within the Duchenne muscular dystrophy gene. Genomics 7, 602–606.
Oudet, C., Hanauer, H., Clemens, P., Caskey, T., and Mandel, J. L. (1992) Two hot spots of recombination in the DMD gene correlate with the deletion prone regions. Hum. Mol. Genet. 1, 599–603.
Bakker, E., Veenema, H., DenDunnen, J.T., vanBroeckhoven, C. Grootscholten, P. M., Bonten, E.J., and vanOmmen, G. J. B. (1989) Germinal mosaicism increases the recurrence risk for new DMD mutations. J. Med. Genet. 26, 553–559.
vanEssen, A.J., Abbs, S., Baiget, M., Bakker, E., Boileau, C., vanBroeckhoven, C., et al. (1992) Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European Study. Hum. Genet. 88, 249–257.
Feener, C. A., Boyce, F.M., and Kunkel, L. M. (1991) Rapid determination of CA polymorphisms in cloned DNA: Application to 5′ region of the dystrophin gene. Am. J. Hum. Genet. 48, 621–627.
Oudet, C., Heilig, R., Hanauer, A., and Mandel, J. L. (1991) Nonradioactive assay for a new microsatellite polymorphism at the 5′ end of the dystrophin gene and estimates of intragenic recombination. Am. J. Hum. Genet. 49, 311–319.
King, S. C., Stapleton, P.M., and Love, D. R. (1994) Two new dinucleotide repeat polymorphisms at the DMD locus. Hum. Mol. Genet. 3, 523.
King, S. C., Roche, A. L., Passos-Bueno, M. R., Takata, R., Zatz, M., Cockburn, D., Seller, A., Stapleton, P.M., and Love, D. R. (1995) Molecular characterisation of further dystrophin gene microsatellites. Mol. Cell. Probes 9, 361–370.
Clemens, P. R., Fenwick, R. G., Chamberlain, J. S., Gibbs, R.A., et al. (1991) Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families using dinucleotide repeat polymorphisms. Am. J. Hum. Genet. 49, 951–960.
Kochling, S., DenDunnen, J.T., Dworniczak, B., and Horst, J. (1995) Two polymorphic dinucleotide repeats in intron 44 of the dystrophin gene. Hum. Genet. 95, 475–477.
Saad, F. A., Busque, C., Vitiello, L., and Danieli, G. A. (1993) DXS997 localised to intron 48 of dystrophin. Hum. Mol. Genet. 2, 2199.
Saad, F. A., Busque, C., Vitiello, L., and Danieli, G. A. (1994) DXS997 localised to intron 48 of dystrophin. Hum. Mol. Genet. 3, 1034.
Powell, J. F., Fodor, F. H., Cockburn, D. J., Monaco, A.P., and Craig, I. W. (1991) A dinucleotide repeat polymorphism at the DMD locus. Nucl. Acids. Res. 19, 1159.
Oudet, C., Heilig, R., and Mandel, J. L. (1990) An informative polymorphism detectable by the polymerase chain reaction at the 3′ end of the dystrophin gene. Hum. Genet. 84, 283–285.
Kneppers et al. DMD data pages, Leiden University
Roberts, R. G., Montandon, A. J., Bobrow, M., and Bentley, D. R. (1989) Detection of novel genetic markers by mismatch analysis. Nucl. Acids Res. 17, 5961–5971.
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Curtis, A., Haggerty, D. (2001). DNA- Based Prenatal Diagnosis for Duchenne and Becker Muscular Dystrophy. In: Bushby, K.M., Anderson, L.V. (eds) Muscular Dystrophy. Methods in Molecular Medicine, vol 43. Springer, Totowa, NJ. https://doi.org/10.1385/1-59259-138-8:147
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DOI: https://doi.org/10.1385/1-59259-138-8:147
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