Advertisement

Human Genetics

, Volume 75, Issue 3, pp 291–293 | Cite as

Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q

  • Ursula Friedrich
  • Han Brunner
  • Dominique Smeets
  • Eric Lambermon
  • Hans-Hilger Ropers
Original Investigations

Summary

In seven large families with myotonic dystrophy (DM) comprising 102 individuals, linkage studies were perfermed employing restriction fragment length polymorphisms in the complement component 3 gene and the 19cen C banding heteromorphism as genetic markers. Three-point linkage analysis excludes DM from the 19cen-C3 segment and strongly supports its assignment to the proximal long arm of chromosome 19.

Keywords

Internal Medicine Metabolic Disease Fragment Length Genetic Marker Length Polymorphism 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Refereces

  1. Ball SR, Buckton KE, Corney G, Fey G, Montiero M, Noades JE, Pym B, Robson EB, Tippet P (1984) Mapping studies with peptidase D (pepD). (7th International Workshop on Human Gene Mapping) Birth Defects 20:441–412Google Scholar
  2. Eiberg H, Mohr J, Staub-Nielsen L, Simonsen N (1983) Genetics and linkage relationships of the C3 polymorphism: discovery of C3-Sc linkage and assignment of LES-C3-DM-Se-PepD-Lu synteny to chromosome 19. Clin Genet 24:159–170Google Scholar
  3. Friedrich U (1985) Centromere heteromorphism in chromosome 19. (Letter to the editor) Clin Genet 28:358–359Google Scholar
  4. Harper PS (1972) Genetic studies in myotomic dystrophy. Thesis for degree of DM, University of Oxford, UKGoogle Scholar
  5. Hulsebos T, Brunner H, Wieringa B, Friedrich U, Smeets D, Oei T, Hustinx T, Scheres J, Wienker T, Humphries S, Myklebost O, Junien C, ter Haar B, Ropers HH (1985) Regional assignment of C3, GPI, ApoC2 and beta-HCG and their linkage relationships with DM and 19cen. Cytogenet Cell Genet 40:658Google Scholar
  6. 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 43:47–56Google Scholar
  7. Hulten M (1974) Chiasma distribution in males. Hereditas 76:52–58Google Scholar
  8. Lusis AJ, Heinzmann C, Sparkes RS, Geller R, Sparkes MC, Mohandas T (1985) Regional mapping on human chromosome 19: apolipoprotein E, apolipoprotein CII, low density lipoprotein (LDL) receptor, peptidase D, glucose D, glucose phosphate isomerase. Cytogenet Cell Genet 40:683Google Scholar
  9. Meredith AL, Shaw DJ, Harley HG, Sarfarazi M, Huson SM, Brook ID, Myklebost O, Harper PS (1985) Linkage of myotonic dystrophy to APOCII and other RFLP's on chromosome 19: an approximate localization for the DM gene. Cytogenet Cell Genet 40:698Google Scholar
  10. Mohr J (1951) Estimation of linkage between the Lutheran and Lewis blood groups. Acta Pathol Microbiol Scand 29:339–344Google Scholar
  11. Naylor S, Lalouel J-M, Shaw DJ (1985) Report of the committee on the genetic constitution of chromosomes 17, 18 and 19. Helsinki Conference 1985. Cytogenet Cell Genet 40:242–267Google Scholar
  12. O'Brien T, Ball S, Sarfarazi M, Harper PS, Robson EB (1983) Genetic linkage between the loci for myotonic dystrophy and peptidase D. Ann Hum Genet 47:117–121Google Scholar
  13. Pericak-Vance MA, Yamaoka L, Assinder R, Bartlett RJ, Ross DA, Fey G, Humphries S, Williamson R, Conneally PM, Roses AD (1985) Tight linkage of APOC2 with myotonic dystrophy on chromosome 19. Cytogenet Cell Genet 40:721–722Google Scholar
  14. Renwick JH, Bundey SE, Ferguson-Smith MA, Izatt MM (1971) Confirmation of linkage of the loci for myotonic dystrophy and ABH secretion. J Med Genet 8:407–416Google Scholar
  15. Roses AD, Pericak-Vance MA, Ross DA, Yamaoka L, Bartlett RJ (1986) RFLPs at the D19S19 locus of human chromosome 19 linked to myotonic dystrophy (DM). Nucleic Acids Res 14:55–69Google Scholar
  16. Sherman SL, Ball SP, Robson EB (1985) A genetic map of chromosome 19 based on 2-point lod tables. Cytogenet Cell Genet 40:742Google Scholar
  17. Wieacker P, Davies K, Cooke HJ, Pearson PL, Williamson R, Bhattacharya S, Zimmer J, Ropers HH (1984) Towards a linkage map of the human X-chromosome: regional assignment of 16 cloned single copy DNA sequences employing a panel of somatic cell hybrids. Am J Hum Genet 36:265–276Google Scholar

Copyright information

© Springer-Verlag 1987

Authors and Affiliations

  • Ursula Friedrich
    • 1
  • Han Brunner
    • 2
  • Dominique Smeets
    • 2
  • Eric Lambermon
    • 2
  • Hans-Hilger Ropers
    • 2
  1. 1.Institute for Human GeneticsUniversity of AarhusAarhusDenmark
  2. 2.Department of Human Genetics, Anthropogenetic InstituteCatholic University of NijmegenNijmegenThe Netherlands

Personalised recommendations