Summary
A linkage study in 30 Becker muscular dystrophy (BMD) kindreds using three cloned DNA sequences from the X chromosome which demonstrate restriction fragment length polymorphisms (RFLPs), suggests that the BMD gene is located on the short arm of the X chromosome, in the p21 region. The genes for Becker and Duchenne dystrophies must therefore be closely linked, if not allelic, and any future DNA probes found to be of practical use in one disorder should be equally applicable to the other. The linkage analysis also provides data on the frequency of recombination along the short arm of the X chromosome, and across the centromeric region.
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References
Becker PE, Kiener F (1955) Eine neue X-chromosomale Muskeldystrophie. Arch Pychiat Nervenkr 193:427–448
Blyth H, Carter CO, Dubowitz V, Emery AEH, Gavin J, Johnston HA, McKusick VA, Race RR, Sanger R, Tippett P (1965) Duchenne's muscular dystrophy and the Xg blood groups: a search for linkage. J Med Genet 2:157–160
Canki N, Dutrillaux B, Tivadar I (1979) Dystrophie musculaire de Duchenne chez une petite fille porteuse d'une translocation t(X;3)(p21;q13) de novo. Ann Genet (Paris) 22:35–39
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. Nucl Acids Res 11:2303–2312
Emery AEH (1976) Methodology in medical genetics. An introduction to statistical methods. Edinburgh London, Churchill Livingstone
Emery AEH, Skinner R (1976) Clinical studies in benign (Beckertype) X-linked muscular dystrophy. Clin Genet 10:189–201
Emery AEH, Smith CAB, Sanger R (1969) The linkage relations of the loci for benign (Becker type) X-borne muscular dystrophy, colour blindness and the Xg blood groups. Ann Hum Genet 32:261–269
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
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 Xp 21. Am J Hum Genet 33:513–518
Kingston HM, Thomas NST, Pearson PL, Sarfarazi M, Harper PS (1983) Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome. J Med Genet 20:255–258
Kunkel LM, Smith KD, Boyer SH, Borgaonkar DS, Watchel SS, Miller OJ, Breg WR, Jones HW Jr, Rary JM (1977) Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 74:1245–1249
Lange K, Elston RC (1975) Extensions to pedigree analysis. I —likelihood calculations for simple and complex pedigrees. Hum Hered 25:95–105
Laurie DA, Palmer RW, Hulten MA (1982) Chiasma derived genetic lengths and recombination fractions: chromosomes 2 and 9. Ann Hum Genet 46:233–244
Lindenbaum RH, Clarke G, Patel M, Moncrieff M, Hughes JT (1979) Muscular dystrophy in an X: 1 translocation female suggests that Duchenne locus is on X chromosome short arm. J Med Genet 16:389–392
Murray JM, Davies KE, Harper PS, Meredith L, Mueller CR, Williamson R (1982) Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature 300:69–71
Ott J (1974) Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet 26:588–597
Page D, De Martinville B, Barker D, Wyman A, White R, Francke U, Botstein D (1982) Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. Proc Natl Acad Sci USA 79:5352–5356
Sarfarazi M, Harper PS, Kingston HM, Murray JM, O'Brien T, Davies KE, Williamson R, Tippett P, Sanger R (1983) Genetic linkage relationships between the Xg blood group system and two X chromosome DNA polymorphisms in families with Duchenne and Becker muscular dystrophy. Hum Genet 65: 169–171
Shaw RF, Dreifuss FE (1969) Mild and severe forms of X-linked muscular dystrophy. Arch Neurol 20:451–460
Skinner R, Smith C Emery AEH (1974) Linkage between the loci for benign (Beckert-type) X-borne muscular dystrophy and deutan colour blindness. J Med Genet 11:317–320
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–417
Spence MA, Sparkes RS, Heckenlively JR, Pearliman JT Zedalis D, Sparkes M, Crist M, Tideman S (1977) Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): Evidence of an RP locus on chromosome 1. Am J Hum Genet 29:397–404. Erratum, 592
Zatz M, Itskan SB, Sanger R, Frota-Pessoa O, Saldanha PH (1974) New linkage data for the X-linked types of muscular dystrophy and G6PD variants, colour blindness, and Xg blood groups. J Med Genet 11:321–327
Zatz M, Vianna-Morgante AM, Campos P, Diamant AJ (1981) Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus. J Med Genet 18:442–447
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Kingston, H.M., Sarfarazi, M., Thomas, N.S.T. et al. Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences. Hum Genet 67, 6–17 (1984). https://doi.org/10.1007/BF00270551
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DOI: https://doi.org/10.1007/BF00270551