Abstract
The indirect approach to carrier detection and prenatal diagnosis of Duchenne and Becker muscular dystrophies based on the study of DNA polymorphisms closely linked to this gene has been followed by five Italian laboratories in the study of 106 pedigrees. Out of 354 women studied up to 1 May 1987, 147 were identified as carriers because of pedigree information and/or of increased creatine phosphokinase (CPK) values. Of the remaining 207, 184 could be assigned to three arbitrarily defined risk categories (low, intermediate and high) using linkage analysis. This disaggregation of women at risk is clearly more useful than that defined before DNA analysis, in which the same 184 women could be assigned only to the low or intermediate risk categories. Prenatal diagnosis was theoretically possible in 90% of carrier women, and was actually performed in 14 pregnancies, which led to the identification of four affected male foetuses, one also having Down syndrome.
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Abbreviations
- DMD:
-
Duchenne muscular dystrophy
- BMD:
-
Becker muscular dystrophy
- CPK:
-
creatine phosphokinase
- PND:
-
prenatal diagnosis
References
Darras BT, Harper JF, Francke U (1987) Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy. N Engl J Med 316:985–992
Davies KE, Pearson PL, Harper PS, Murray JM, O'Brien T, Sarfarazi M, Williamson R (1983) Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. Nucleic Acids Res 11:2303–2312
Fadda S, Mochi M, Roncuzzi L, Sangiorgi S, Sbarra D, Zata M, Romeo G (1985) Definitive localization of Becker muscular dystrophy in Xp by linkage to a cluster of DNA polymorphisms (DXS43 and DXS9). Hum Genet 71:31–36
Franke U, Ochs HD, Martinville B de, Giacalone J, Lindgren V, Disteche C, Pagan RA, Hofker MH, Omenn G-JB van, Pearson PL, Wedgwood RJ (1985) Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet 37:250–267
Franke U, Harper JF, Darras BT, Cowan JM, McCabe ERB, Kohlschutter A, Seltzen WK, Saito F, Goto J, Harpey J-P, Wise JE (1987) Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. Am J Hum Genet 40:212–277
Fuerst D, Nave R, Osborn M, Weber K, Bardosi A, Archidiacono N, Ferro M, Romano V, Romeo G (1987) Nebulin and titin expression in Duchenne muscular dystrophy appears normal. FEBS Lett 224:49–53
Greenstein RM, Reardon MP, Chan TS, Middleton AB, Mulivor RA, Greene AE, Coriell LL (1980) An (X;11) translocation in a girl with Duchenne muscular dystrophy. Cytogenet Cell Genet 27:268
Haldane JBS (1935) The rate of spontaneous mutations of a human gene. J Genet 31:317–326
Jacobs PA, Hunt PA, Mayer M, Bart RD (1981) 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 33:513–518
Lathrop GM, Lalouel JM (1984) Easy calculation of lod-scores and genetic risks on small computers. Am J Hum Genet 36:460–465
Monaco AP, Neve RL, Colletti-Freener C, Bertalson CJ, Kurnit DN, Kunkel LM (1986) Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 323:646–650
Moser H (1984) Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention. Hum Genet 66:17–40
Ott J (1985) Analysis of human genetic linkage. Johns Hopkins University Press, Baltimore
Roncuzzi L, Fadda S, Mochi M, Prosperi L, Sangiorgi S, Santamaria R, Sbarra D, Besana D, Morandi L, Rocchi M, Romeo G (1985) Mapping of X-linked Becker muscular dystrophy through crossovers identified by DNA polymorphisms and by haplotype characterization in somatic cell hybrids. Am J Hum Genet 37:407–417
Roncuzzi L, Ferlini A, Pirozzi A, Romeo G (1986) Origin of new mutations in Duchenne muscular dystrophy. Hum Genet 74:456–460
Verellen-Dumoulin C, Freund M, De Meyer R, Laterre C, Frederic J, Thompson MW, Markovic VD, Worton RG (1984) 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 67:115–119
Walker A, Hart K, Cole C, Hodgson S, Johnson L, Dubowitz V, Bobrow M (1986) Linkage studies in Duchenne and Becker muscular dystrophies. J Med Genet 23:538–547
Wood DS, Zeviani M, Prelle A, Bonilla E, Salviati G, Miranda AF, Di Mauro S, Rowland LP (1987) Is nebulin the defective gene product in Duchenne muscular dystrophy? N Engl J Med 316:107–108
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Romeo, G., Devoto, M., Archidiacono, N. et al. Italian experience regarding the prevention of Duchenne and Becker muscular dystrophies. Eur J Pediatr 147, 412–415 (1988). https://doi.org/10.1007/BF00496422
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DOI: https://doi.org/10.1007/BF00496422