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. 1989 Dec;26(12):750–754. doi: 10.1136/jmg.26.12.750

Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers.

A M Norman 1, J L Floyd 1, A L Meredith 1, P S Harper 1
PMCID: PMC1015754  PMID: 2575669

Abstract

The close genetic linkage between the loci for apolipoprotein CII (ApoCII) and myotonic dystrophy makes presymptomatic detection and prenatal diagnosis feasible. We report three years' service experience of providing presymptomatic detection and prenatal diagnosis for myotonic dystrophy in 99 families. Careful clinical study of older family members remains important. The introduction of new probes (CKMM and BCL4) has helped to solve the problem of uninformativeness owing to unhelpful genotype distribution in a family. Nevertheless, informativeness cannot be guaranteed and families should be studied before pregnancy is undertaken whenever possible. Presymptomatic testing and prenatal diagnosis for myotonic dystrophy are soundly based. All affected subjects should have DNA banked for future use when other family members may require genotype information.

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Selected References

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

  1. Brunner H. G., Korneluk R. G., Coerwinkel-Driessen M., MacKenzie A., Smeets H., Lambermon H. M., van Oost B. A., Wieringa B., Ropers H. H. Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM). Hum Genet. 1989 Mar;81(4):308–310. doi: 10.1007/BF00283680. [DOI] [PubMed] [Google Scholar]
  2. Eiberg H., Mohr J., Nielsen L. S., Simonsen N. Genetics and linkage relationships of the C3 polymorphism: discovery of C3-Se linkage and assignment of LES-C3-DM-Se-PEPD-Lu synteny to chromosome 19. Clin Genet. 1983 Sep;24(3):159–170. doi: 10.1111/j.1399-0004.1983.tb02233.x. [DOI] [PubMed] [Google Scholar]
  3. Griggs R. C., Wood D. S. Criteria for establishing the validity of genetic recombination in myotonic dystrophy. Neurology. 1989 Mar;39(3):420–421. doi: 10.1212/wnl.39.3.420. [DOI] [PubMed] [Google Scholar]
  4. Harper P. S. Congenital myotonic dystrophy in Britain. I. Clinical aspects. Arch Dis Child. 1975 Jul;50(7):505–513. doi: 10.1136/adc.50.7.505. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Harper P. S. Congenital myotonic dystrophy in Britain. II. Genetic basis. Arch Dis Child. 1975 Jul;50(7):514–521. doi: 10.1136/adc.50.7.514. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Harper P. S., Rivas M. L., Bias W. B., Hutchinson J. R., Dyken P. R., McKusick V. A. Genetic linkage confirmed between the locus for myotonic dystrophy and the ABH-secretion and Lutheran blood group loci. Am J Hum Genet. 1972 May;24(3):310–316. [PMC free article] [PubMed] [Google Scholar]
  7. Korneluk R. G., MacLeod H. L., McKeithan T. W., Brooks J. D., MacKenzie A. E. A chromosome 19 clone from a translocation breakpoint shows close linkage and linkage disequilibrium with myotonic dystrophy. Genomics. 1989 Feb;4(2):146–151. doi: 10.1016/0888-7543(89)90293-0. [DOI] [PubMed] [Google Scholar]
  8. Lunt P. W., Meredith A. L., Harper P. S. First-trimester prediction in fetus at risk for myotonic dystrophy. Lancet. 1986 Aug 9;2(8502):350–351. doi: 10.1016/s0140-6736(86)90044-9. [DOI] [PubMed] [Google Scholar]
  9. Meredith A. L., Huson S. M., Lunt P. W., Sarfarazi M., Harley H. G., Brook J. D., Shaw D. J., Harper P. S. Application of a closely linked polymorphism of restriction fragment length to counselling and prenatal testing in families with myotonic dystrophy. Br Med J (Clin Res Ed) 1986 Nov 22;293(6558):1353–1356. doi: 10.1136/bmj.293.6558.1353. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Shaw D. J., Meredith A. L., Sarfarazi M., Huson S. M., Brook J. D., Myklebost O., Harper P. S. The apolipoprotein CII gene: subchromosomal localisation and linkage to the myotonic dystrophy locus. Hum Genet. 1985;70(3):271–273. doi: 10.1007/BF00273455. [DOI] [PubMed] [Google Scholar]
  11. Wallis S. C., Donald J. A., Forrest L. A., Williamson R., Humphries S. E. The isolation of a genomic clone containing the apolipoprotein CII gene and the detection of linkage disequilibrium between two common DNA polymorphisms around the gene. Hum Genet. 1984;68(4):286–289. doi: 10.1007/BF00292585. [DOI] [PubMed] [Google Scholar]

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