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. 1988 Oct 1;297(6652):843–846. doi: 10.1136/bmj.297.6652.843

Molecular genetics in clinical practice: evolution of a DNA diagnostic service.

A L Meredith 1, M Upadhyaya 1, P S Harper 1
PMCID: PMC1834587  PMID: 2972330

Abstract

The development of a molecular genetics diagnostic service over a three year period was studied in a National Health Service region with a population of three million. Starting from a time when few diagnostic applications were possible, the number of disorders and the overall demand had grown rapidly. Conditions for which molecular genetic diagnosis had been provided included Duchenne and Becker muscular dystrophy, myotonic dystrophy, Huntington's disease, and cystic fibrosis. Of 405 requests for diagnosis, 151 (37%) related to determination of carrier state, 187 (46%) to determining the feasibility of future prenatal diagnosis, and 67 (17%) were prenatal diagnostic biopsy samples, almost exclusively of first trimester chorion. DNA samples for future diagnostic use with a wide range of genetic disorders had also been banked. The study showed a need for close integration with clinical genetics services to allow satisfactory genetic counselling and interpretation of risks.

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Selected References

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

  1. Estivill X., Farrall M., Scambler P. J., Bell G. M., Hawley K. M., Lench N. J., Bates G. P., Kruyer H. C., Frederick P. A., Stanier P. A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. 1987 Apr 30-May 6Nature. 326(6116):840–845. doi: 10.1038/326840a0. [DOI] [PubMed] [Google Scholar]
  2. Forrest S. M., Smith T. J., Cross G. S., Read A. P., Thomas N. S., Mountford R. C., Harper P. S., Geirsson R. T., Davies K. E. Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy. Lancet. 1987 Dec 5;2(8571):1294–1297. doi: 10.1016/s0140-6736(87)91192-5. [DOI] [PubMed] [Google Scholar]
  3. Harper P. S., O'Brien T., Murray J. M., Davies K. E., Pearson P., Williamson R. The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy. J Med Genet. 1983 Aug;20(4):252–254. doi: 10.1136/jmg.20.4.252. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Harper P. S., Tyler A., Smith S., Jones P., Newcombe R. G., McBroom V. A genetic register for Huntington's chorea in South Wales. J Med Genet. 1982 Aug;19(4):241–245. doi: 10.1136/jmg.19.4.241. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Kingston H. M., Thomas N. S., Pearson P. L., Sarfarazi M., Harper P. S. Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome. J Med Genet. 1983 Aug;20(4):255–258. doi: 10.1136/jmg.20.4.255. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Lawn R. M., Fritsch E. F., Parker R. C., Blake G., Maniatis T. The isolation and characterization of linked delta- and beta-globin genes from a cloned library of human DNA. Cell. 1978 Dec;15(4):1157–1174. doi: 10.1016/0092-8674(78)90043-0. [DOI] [PubMed] [Google Scholar]
  7. Lench N., Stanier P., Williamson R. Simple non-invasive method to obtain DNA for gene analysis. Lancet. 1988 Jun 18;1(8599):1356–1358. doi: 10.1016/s0140-6736(88)92178-2. [DOI] [PubMed] [Google Scholar]
  8. 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]
  9. Murray J. M., Davies K. E., Harper P. S., Meredith L., Mueller C. R., Williamson R. Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature. 1982 Nov 4;300(5887):69–71. doi: 10.1038/300069a0. [DOI] [PubMed] [Google Scholar]
  10. Quarrell O. W., Meredith A. L., Tyler A., Youngman S., Upadhyaya M., Harper P. S. Exclusion testing for Huntington's disease in pregnancy with a closely linked DNA marker. Lancet. 1987 Jun 6;1(8545):1281–1283. doi: 10.1016/s0140-6736(87)90541-1. [DOI] [PubMed] [Google Scholar]
  11. Wainwright B. J., Scambler P. J., Schmidtke J., Watson E. A., Law H. Y., Farrall M., Cooke H. J., Eiberg H., Williamson R. Localization of cystic fibrosis locus to human chromosome 7cen-q22. 1985 Nov 28-Dec 4Nature. 318(6044):384–385. doi: 10.1038/318384a0. [DOI] [PubMed] [Google Scholar]
  12. Weatherall D. J., Old J. M. Antenatal diagnosis of the haemoglobin disorders by analysis of foetal DNA. Mol Biol Med. 1983 Jul;1(1):151–155. [PubMed] [Google Scholar]
  13. Williams H., Sarfarazi M., Brown C., Thomas N., Harper P. S. The use of flanking markers in prediction for Duchenne muscular dystrophy. Arch Dis Child. 1986 Mar;61(3):218–222. doi: 10.1136/adc.61.3.218. [DOI] [PMC free article] [PubMed] [Google Scholar]

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