Summary
Linkage analysis and haplotype characterization for the allelic system detected at the 3′ creatine kinase muscle type (CKMM) locus were carried out in 59 myotonic dystrophy (DM) families from Italy and Spain. A maximum lod score (z max) of 21.26 at a recombination frequency (θ) of 0.00 was found. No statistically significant linkage disequilibrium was observed between DM and the RFLPs examined. However, a substantial linkage disequilibrium was found between CKMM-TaqI and CKMM-NcoI sites in these two populations.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bartlett RJ, Periak-Vance MA, Yamoka L, Gilbert J, Herbstreith M, Hung WY, Lee JE, Mohands T, Bruns G, Laberge C, Thibault MC, Ross D, Roses AD (1987) A new probe for the diagnosis of myotonic muscular dystrophy. Science 235:1648–1650
Brunner HG, Korneluk RG, Coerwinkel-Driessen M, MacKenzie A, Smeetts H, Lambermon HMM, van Oost BA, Wieringa B, Ropers HH (1989) Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM) Hum Genet 81:308–310
Gennarelli M, Novelli G, Giovannucci Uzielli ML, Pietropolli A, Dallapiccola B (1990) Rapid prenatal diagnosis of myotonic dystrophy in the second trimester using polymerase chain reaction. J Med Genet 27:662–663
Griggs RC, Wood DS, the Working Group on the Molecular Defect in Myotonic Dystrophy (1989) Criteria for establishing the validity of genetic recombination in myotonic dystrophy. Neurology 39:420–421
Haam EA, Mulley JC, Gedeon AK, Heffield LJ, Sutherland GR (1988) Presymptomatic testing for myotonic dystrophy by means of the linked DNA marker APOC2. Med J Aust 149:326–329
Harper PS (1989) Myotonic dystrophy, 2nd edn. Saunders, Philadelphia
Humphries SE, Jowet 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, MacKenzie AE, Nakamura Y, Dube I, Jacob P, Hunter AGW (1989a) A reordering of human chromosome 19 long arm DNA markers and identification of markers flanking the myotonic distrophy locus. Genomics 5:596–604
Korneluk RG, MacLeod HL, McKeithan TW, Brooks JD, MacKenzie AE (1989b) A chromosome 19 clone from a translocation breakpoint shows close linkage and linkage disequilibrium with myotonic dystrophy. Genomics 4:146–151
Johnson K, Shelbourne P, Davies J, Buxoton J, Nimmo E, Siciliano MJ, Bachinski LL, Anvret M, Harley H, Rundle S, Miki T, Brunner H, Williamson R (1990) A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus. Am J Hum Genet 46:1073–1081
Le Beau MM, Ryan D Jr, Pericak-Vance MA (1989) Report of the committee on the genetic consitution of chromosome 18 and 19. Cytogenet Cell Genet 51:338–358
Nokelainen P, Alanen-Kurki L, Winqvist R, Falck B, Somer H, Leisti J, Johnson K, Savontaus ML, Peltonen L (1990) Linkage disequilibrium detected between dystrophia myotonica and the APOC2 locus in a Finnish population. Hum Genet 85:541–545
Ott J (1985) Analysis of human genetic linkage. Johns Hopkins University Press, Balitmore London
Pericak-Vance MA, Yamaoka LH, Assinder RIF, Hung WY, Bartlett RJ, Staich JM, Gaskell PC, Ross DA, Shrrman 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
Perryman MB, Kerner SA, Bohlmeyer TJ, Roberts R (1986) Isolation and sequence analysis of a full length cDNA for human M creatine kinase. Biochem Biophys Res Commun 140:981–989
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
Smeets H, Bachinsky L, Coerwinkel M, Schepens J, Hoeijmarkers J, van Duin M, Grzeshik KH, Weber CA, de Jong P, Siciliano MJ, Wieringa B (1990) A long-range restriction map of the human chromosome 19q13 region: close physical linkage between CKMM and the ERCC1 and ERCC2 gene. Am J Hum Genet 46:492–501
Spiess EB (1989) Genes in populations, 2nd edn. Wiley, New York
Stallings RL, Olson E, Strauss AW, Thompson LH, Bachinski LL, Siciliano MJ (1988) Human creatine kinase genes on chromosomes 15 and 19, and proximity of the gene for the muscle form to the genes for apolipoprotein C2 and excision repair. Am J Hum Genet 43:144–151
Takemoto Y, Miki T, Nishikawa K, Nakura J, Kamino K, Takai SI, Honjo T, Ogihara T (1990) The locus for Japanese myotonic dystrophy is also linked to D19S19 on the long arm of chroosome 19. Genomics 6:195–196
Yamaoka LH, Pericak-Vance MA, Speer MC, Gaskell PC, Stajich J, Haynes C, Hung WY, Lamberge C, Thibault MC, Mathieu J, Walker AP, Bartlett RJ, Roses AD (1990) Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19. Neurology 40:222–226
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Gennarelli, M., Novelli, G., Cobo, A. et al. 3′ creatine kinase (M-type) polymorphisms linked to myotonic dystrophy in Italian and Spanish populations. Hum Genet 87, 654–656 (1991). https://doi.org/10.1007/BF00201719
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00201719