Summary
We have studied genetic linkage between the gene for creatine kinase muscle type (CKMM) and the gene for myotonic dystrophy (DM). In a panel of 65 myotonic dystrophy families from Canada and the Netherlands, a maximum lod score (Zmax) of 22.8 at a recombination frequency (Θ) of 0.03 was obtained. Tight linkage was also demonstrated for CKMM and the gene for apolipoprotein C2 (ApoC2). This establishes CKMM as a useful marker for myotonic dystrophy.
Similar content being viewed by others
References
Aldridge J, Kunkel L, Bruns G, Tantravahi U, Lalande M, Brewster T, Moreau E, Wilson M, Bromley W, Roderick T, Latt SA (1984) A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet 36: 546–564
Bartlett RJ, Pericak-Vance MA, Yamaoka L, Gilbert J, Herbstreith M, Hung WY, Lee JE, Mohandas T, Bruns G, Ross D, Roses AD (1987) A new probe for the diagnosis of myotonic muscular dystrophy. Science 235: 1648–1650
Batten FE, Gibb HP (1909) Myotonia atrophica. Brain 32: 187–205
Becker PE (1977) Myotonia congenita and syndromes associated with myotonia. Thieme, Stuttgart
Coerwinkel-Driessen M, Schepens J, Zandvoort P van, Oost B van, Mariman E, Wieringa B (1988) NcoI RFLP at the creatine kinasemuscle type gene locus (CKMM, chromosome 19). Nucleic Acids Res 16: 8743
Eiberg H, Mohr J, Staub-Nielsen L, Simonsen N (1982) Linkage relationship between the locus for C3 and 50 polymorphic systems: assignment of C3 to the DM-Se-Lu linkage group: confirmation of C3-Les linkage: support of Les-DM synteny. In: Proceedings of the 6th International Congress of Human Genetics, Jerusalem 1981, Liss, New York
Feinberg AP, Vogelstein B (1984) A technique for radiolabeling restriction endonuclease fragments to high specific activity. Anal Biochem 137: 266–267
Friedrich U, Brunner H, Smeets D, Lambermon E, Ropers H-H (1987) Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q. Hum Genet 75: 291–293
Frossard PM, Coleman RT, Assmann G (1986) NcoI RFLP at the human apolipoprotein CII gene locus. Nucleic Acids Res 14: 5120
Frossard PM, Coleman RT, Funke H, Assmann G (1987) Dimorphic markers for the human apolipoprotein CII locus. Gene 51: 103–106
Harper PS (1979) Myotonic dystrophy, Saunders Philadelphia
Hulsebos T, Brunner H, Wieringa B, Friedrich U, Smeets D, Oei T, Hustinx T, Scheres J, Wienker T, Humphries S, Myklebost O, Junien C, Haar B ter, Ropers H-H (1985) Regional assignment of C3, GPI, ApoC2 and beta-HCG and their linkage relationships with DM and 19cen. Cytogenet Cell Genet 40: 658
Hulsebos T, Wieringa B, Hochstenbach R, Smeets D, Schepens J, Oerlemans F, Zimmer J, Ropers H-H (1986) Toward early diagnosis of myotonic dystrophy: construction and characterization of a somatic cell hybrid with a single human der(19) chromosome. Cytogenet Cell Genet 43: 47–56
Humphries SE, Jowett NI, Williams L, Rees A, Vella M, Kessling A, Myklebost O, Lydon A, Seed M, Galton DJ, Williamson R (1983) A DNA polymorphism adjacent to the human apolipoprotein CII gene. Mol Biol Med 1: 463–471
Korneluk RG, MacLeod HL, Leblond SC, Monteith NL, Baralle FE, Hunter AGW (1987) AvaII RFLP at the human apolipoprotein CII (Apo CII) gene locus. Nucleic Acids Res 15: 6769
Lathrop CM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36: 460–465
Lusis AJ, Heinzmann C, Sparkes RS, Geller R, Sparkes MC, Mohandas T (1985) Regional mapping on chromosome 19: apolipoprotein E, apolipoprotein CII, low density lipoprotein (LDL) receptor, peptidase D, glucose phosphate isomerase. Cytogenet Cell Genet 40: 683
MacKenzie AE, MacLeod HL, Hunter AGW, Korneluk RG (1988) Linkage analysis of the apolipoprotein C2 gene and myotonic dystrophy on human chromosome 19 reveals linkage disequilibrium in a French Canadian population. Am J Hum Genet 44: 140–147
Meredith AL, Huson SM, Lunt PW, Sarfarazi M, Harley HG, Brook JD, Shaw DJ, Harper PS (1986) Application of a closely linked polymorphism of restriction fragment length to counselling and prenatal testing in families with myotonic dystrophy. Br Med J 293: 1353–1356
Myklebost O, Williamson B, Markham AF, Myklebost SR, Rogers J, Woods DE, Humphries SE (1984) The isolation and characterization of cDNA clones for human apolipoprotein C2. J Biol Chem 259: 4401–4404
Nigro JM, Schweinfest CW, Rajkovic A, Pavlovic J, Jamal S, Dottin RP, Hart JT, Kamarck ME, Rae PMM, Carty MD, Martin-DeLeon P (1987) cDNA cloning and mapping of the human creatine kinase M gene to 19q13. Am J Hum Genet 40: 115–125
Pericak-Vance MA, Yamaoka LH, Assinder RIF, Hung W-Y, Bartlett RJ, Stajch JM, Gaskell PC, Ross DA, Sherman S, Fey GH, Humphries S, Williamson R, Roses DA (1986) Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19. Neurology 36: 1418–1423
Putney S, Herlihy W, Royal N, Pang H, Aposhian HV, Pickering L, Belagaje R, Biemann K, Page D, Kuby SA, Schimmel P (1984) Rabbit muscle creatine phosphokinase. J Biol Chem 259: 14317–14320
Shaw DJ, Meredith AL, Sarfarazi M, Huson SM, Brook JD, Myklebost O, Harper PS (1985) The apolipoprotein CII gene: subchromosomal localization and linkage to the myotonic dystrophy locus. Hum Genet 70: 271–273
Steinert H (1909) Myopathologische Beiträge. I. Über das klinische und anatomische Bild des Muskelschwunds der Myotoniker. Dtsch Z Nervenheilkd 37: 58–104
Wallis SC, Donald JA, Forrest LA, Williamson R, Humphries SE (1984) The isolation of a genomic clone containing the apolipo-protein CII gene and the detection of linkage disequilibrium between two common DNA polymorphisms around the gene. Hum Genet 68: 286–289
Whitehead AS, Solomon E, Chambers S, Bodmer WF, Povey S, Fey G (1982) Assignment of the structural gene for the third component of human complement to chromosome 19. Proc Natl Acad Sci USA 79: 5021–5026
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Brunner, H.G., Korneluk, R.G., Coerwinkel-Driessen, M. et al. Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM). Hum Genet 81, 308–310 (1989). https://doi.org/10.1007/BF00283680
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00283680