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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1991 Feb;28(2):84–88. doi: 10.1136/jmg.28.2.84

Identification of new DNA markers close to the myotonic dystrophy locus.

J D Brook 1, H G Harley 1, K V Walsh 1, S A Rundle 1, M J Siciliano 1, P S Harper 1, D J Shaw 1
PMCID: PMC1016773  PMID: 1672160

Abstract

The most useful markers for the prenatal diagnosis of myotonic dystrophy (DM) are APOC2 and CKM, both of which map proximal to DM. In order to produce other markers useful for DM, we have screened genomic DNA libraries constructed from cell line 20XP3542-1-4, which contains 20 to 30 Mb of human material including APOC2 and CKM. Of 51 human clones identified, seven map to chromosome 17, four to chromosome 8, and nine to chromosome 19, and the remaining 31 were excluded form chromosome 19 but not localised further. Four of the clones from chromosome 19 map distal to CKM and two of these clones (D19S62 and D19S63) are closely linked to DM. Analysis of a family in which a crossover between CKM and DM has occurred shows that neither D19S62 nor D19S63 and DM have recombined, suggesting that D19S62 and D19S63 are either closer to or flanking DM in relation to CKM. Pulsed field gel analysis showed that CKM, D19S62, and D19S63 map to a region of at least 1500 kb.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Brook J. D., Harley H. G., Rundle S. A., Walsh K. V., Shaw D. J. RFLP for a DNA clone which maps to 19q13.2-19qter (D19S63). Nucleic Acids Res. 1990 Feb 25;18(4):1085–1085. [PMC free article] [PubMed] [Google Scholar]
  2. Brook J. D., Shaw D. J., Meredith L., Bruns G. A., Harper P. S. Localisation of genetic markers and orientation of the linkage group on chromosome 19. Hum Genet. 1984;68(4):282–285. doi: 10.1007/BF00292584. [DOI] [PubMed] [Google Scholar]
  3. Brook J. D., Shaw D. J., Thomas N. S., Meredith A. L., Cowell J., Harper P. S. Mapping genetic markers on human chromosome 19 using subchromosomal fragments in somatic cell hybrids. Cytogenet Cell Genet. 1986;41(1):30–37. doi: 10.1159/000132192. [DOI] [PubMed] [Google Scholar]
  4. Brook J. D., Skinner M., Roberts S. H., Rettig W. J., Almond J. W., Shaw D. J. Further mapping of markers around the centromere of human chromosome 19. Genomics. 1987 Dec;1(4):320–328. doi: 10.1016/0888-7543(87)90031-0. [DOI] [PubMed] [Google Scholar]
  5. Brook J. D., Walsh K. V., Harley H. G., Rundle S. A., Shaw D. J. A polymorphic DNA clone which maps to 19q13.2-19qter (D19S62). Nucleic Acids Res. 1990 Feb 25;18(4):1086–1086. doi: 10.1093/nar/18.4.1086-a. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Brunner H. G., Smeets H., Lambermon H. M., Coerwinkel-Driessen M., van Oost B. A., Wieringa B., Ropers H. H. A multipoint linkage map around the locus for myotonic dystrophy on chromosome 19. Genomics. 1989 Oct;5(3):589–595. doi: 10.1016/0888-7543(89)90027-x. [DOI] [PubMed] [Google Scholar]
  7. Feinberg A. P., Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem. 1983 Jul 1;132(1):6–13. doi: 10.1016/0003-2697(83)90418-9. [DOI] [PubMed] [Google Scholar]
  8. Harley H. G., Brook J. D., Jackson C. L., Glaser T., Walsh K. V., Sarfarazi M., Kent R., Lager M., Koch M., Harper P. S. Localization of a human Na+,K+-ATPase alpha subunit gene to chromosome 19q12----q13.2 and linkage to the myotonic dystrophy locus. Genomics. 1988 Nov;3(4):380–384. doi: 10.1016/0888-7543(88)90131-0. [DOI] [PubMed] [Google Scholar]
  9. Hulsebos T., Wieringa B., Hochstenbach R., Smeets D., Schepens J., Oerlemans F., Zimmer J., Ropers H. H. Toward early diagnosis of myotonic dystrophy: construction and characterization of a somatic cell hybrid with a single human der(19) chromosome. Cytogenet Cell Genet. 1986;43(1-2):47–56. doi: 10.1159/000132297. [DOI] [PubMed] [Google Scholar]
  10. Johnson K., Shelbourne P., Davies J., Buxton J., Nimmo E., Anvret M., Bonduelle M., Williamson B., Savontaus M. L. Recombination events that locate myotonic dystrophy distal to APOC2 on 19q. Genomics. 1989 Nov;5(4):746–751. doi: 10.1016/0888-7543(89)90116-x. [DOI] [PubMed] [Google Scholar]
  11. Johnson K., Shelbourne P., Davies J., Buxton J., Nimmo E., Siciliano M. J., Bachinski L. L., Anvret M., Harley H., Rundle S. A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus. Am J Hum Genet. 1990 Jun;46(6):1073–1081. [PMC free article] [PubMed] [Google Scholar]
  12. Korneluk R. G., MacKenzie A. E., Nakamura Y., Dubé I., Jacob P., Hunter A. G. A reordering of human chromosome 19 long-arm DNA markers and identification of markers flanking the myotonic dystrophy locus. Genomics. 1989 Oct;5(3):596–604. doi: 10.1016/0888-7543(89)90028-1. [DOI] [PubMed] [Google Scholar]
  13. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Liu P., Legerski R., Siciliano M. J. Isolation of human transcribed sequences from human-rodent somatic cell hybrids. Science. 1989 Nov 10;246(4931):813–815. doi: 10.1126/science.2479099. [DOI] [PubMed] [Google Scholar]
  15. Schonk D., Coerwinkel-Driessen M., van Dalen I., Oerlemans F., Smeets B., Schepens J., Hulsebos T., Cockburn D., Boyd Y., Davis M. Definition of subchromosomal intervals around the myotonic dystrophy gene region at 19q. Genomics. 1989 Apr;4(3):384–396. doi: 10.1016/0888-7543(89)90346-7. [DOI] [PubMed] [Google Scholar]
  16. Shaw D. J., Harley H. G., Brook J. D., McKeithan T. W. Long-range restriction map of a region of human chromosome 19 containing the apolipoprotein genes, a CLL-associated translocation breakpoint, and two polymorphic MluI sites. Hum Genet. 1989 Aug;83(1):71–74. doi: 10.1007/BF00274152. [DOI] [PubMed] [Google Scholar]
  17. Shaw D. J., Meredith A. L., Sarfarazi M., Harley H. G., Huson S. M., Brook J. D., Bufton L., Litt M., Mohandas T., Harper P. S. Regional localisations and linkage relationships of seven RFLPs and myotonic dystrophy on chromosome 19. Hum Genet. 1986 Nov;74(3):262–266. doi: 10.1007/BF00282545. [DOI] [PubMed] [Google Scholar]
  18. Smeets H., Bachinski L., Coerwinkel M., Schepens J., Hoeijmakers J., van Duin M., Grzeschik K. H., Weber C. A., de Jong P., Siciliano M. J. A long-range restriction map of the human chromosome 19q13 region: close physical linkage between CKMM and the ERCC1 and ERCC2 genes. Am J Hum Genet. 1990 Mar;46(3):492–501. [PMC free article] [PubMed] [Google Scholar]
  19. Stallings R. L., Olson E., Strauss A. W., Thompson L. H., Bachinski L. L., Siciliano M. J. 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. 1988 Aug;43(2):144–151. [PMC free article] [PubMed] [Google Scholar]
  20. Walsh K. V., Harley H. G., Brook J. D., Rundle S. A., Sarfarazi M., Harper P. S., Shaw D. J. Linkage relationships of the apolipoprotein C1 gene and a cytochrome P450 gene (CYP2A) to myotonic dystrophy. Hum Genet. 1990 Aug;85(3):305–310. doi: 10.1007/BF00206751. [DOI] [PubMed] [Google Scholar]
  21. Worwood M., Brook J. D., Cragg S. J., Hellkuhl B., Jones B. M., Perera P., Roberts S. H., Shaw D. J. Assignment of human ferritin genes to chromosomes 11 and 19q13.3----19qter. Hum Genet. 1985;69(4):371–374. doi: 10.1007/BF00291657. [DOI] [PubMed] [Google Scholar]

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