Summary
Three families, in which several male individuals suffer from a hereditary neuromuscular disease, were examined by analysis of naturally occurring restriction fragment length polymorphisms (RFLPs) and by screening for deletions. Originally, differential diagnosis included spinal muscular atrophy (two families) and limb girdle syndrome (one family) or Becker muscular dystrophy. Since deletions were not detectable, an X-chromosomal segment, carrying DNA markers for the dystrophin gene and its flanking regions was reconstructed; this demonstrated Becker muscular dystrophy is the most probable primary cause of illness in these families. Furthermore, the possible carriership of female members of these families could be determined accurately.
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Baas F, Bikker H, Van Ommen GJB, De Vijlder JJM (1984) Unusual scarcity of restriction site polymorphisms in the human thyroid gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele. Hum Genet 67:301–305
Bakker E, Goor N, Wrogeman K, Kunkel LM, Fenton WA, Majoor-Krakauer D, Jahoda MGJ, Van Ommen GJB, Hofker MH, Mandel JL, Davies KE, Willard HF, Sandkuyl L, Van Essen AJ, Sachs ES, Pearson PL (1985) Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet I:655–658
Bakker E, Bonten EJ, De Lange LF, Veenema H, Majoor-Krakauer D, Hofker MH, Van Ommen GJB, Pearson PL (1986) DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure. J Med Genet 23:573–580
Becker PE (1955) Eine neue X-chromosomale Muskeldystrophie. Arch Psychiatr Nervenkr 193:427–448
Bolhuis PA, Defesche JC, Van der Helm HJ (1987) Differential diagnosis of genetic disease by DNA restriction fragment length polymorphisms. Clin Chim Acta 165:271–276
Bradley WG, Jones MZ, Mussini JM, Fawcett PRW (1978) Becker-type muscular dystrophy. Muscle Nerve 1:111–132
Cooper DN, Schmidtke J (1987) Diagnosis of genetic disease using recombinant DNA. Hum Genet 77:65–75
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 DMD locus on the short arm of the human X-chromosome. Nucleic Acids Res 11:2303–2312
Davies KE, Mandel JL, Weissenbach J, Fellous M (1987) Report of the committee on the genetic constitution of the X and Y chromosome. (9th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 46:277–316
Forrest SM, Cross GS, Speer A, Gardner-Medwin D, Burn J, Davies KE (1987) Preferential deletions of exons in Duchenne and Becker muscular dystrophies. Nature 329:638–640
Goebel HH, Prange H, Gullotta F, Kiefer H, Jones MZ (1979) Becker's X-linked muscular dystrophy. Histological, enzyme-histochemical and ultrastructural studies of two cases, originally reported by Becker. Acta Neuropathol 46:69–77
Grimm T (1984) Genetic counseling in Becker type X-linked muscular dystrophy. Am J Med Genet 18:713–723
Hart KA, Hodgson S, Walker A, Cole CG, Johnson L, Dubowitz V, Bobrow M (1987) DNA deletions in mild and severe Becker muscular dystrophy. Hum Genet 75:281–285
Hofman EP, Brown RH, Kunkel LM (1987) Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51:919–927
Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM (1987) Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50: 509–517
Kugelberg E, Welander L (1956) Heredofamilial juvenile muscular atrophy simulating muscular dystrophy. Arch Neurol Psychiatry 75:500–509
Kunkel LM, et al (1986) Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 322:73–77
Lidsky AS, Ledley FD, Dilella AG, Kwok SCM, Daiger SP, Robson KJM, Woo SLC (1985) Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria. Am J Hum Genet 37:619–634
Maniatis T, Fritsch EF, Sambrook J (eds) (1982) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
McKusick VA (1986) Mendelian inheritance in man, 7th edn. Johns Hopkins University Press, Baltimore, pp 1455–1456
Orkin SH (1987) Genetic diagnosis by DNA analysis. N Engl J Med 377:1023–1025
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517
Ten Houten R, De Visser M (1984) Histopathological findings in Becker-type muscular dystrophy. Arch Neurol 41:729–733
Van Ommen GJB, Bertelson C, Ginjaar HB, Den Dunnen JT, Bakker E, Chelly J, Matton M, Van Essen AJ, Bartley J, Kunkel LM, Pearson PL (1987) Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker. Genomics 1:329–336
Walton JN (1988) Disorders of voluntary muscle, 5th edn. Churchill Livingstone, London
Yen PH, Allen E, Marsh B, Mohandras T, Wang N, Taggart RT, Shapiro LJ (1987) Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange. Cell 49:443–454
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Defesche, J.C., de Visser, M., Bakker, E. et al. DNA restriction fragment length polymorphisms in differential diagnosis of genetic disease: application in neuromuscular diseases. Hum Genet 82, 55–58 (1989). https://doi.org/10.1007/BF00288272
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DOI: https://doi.org/10.1007/BF00288272