Abstract
Recombinant DNA technology, one of the major controversial areas of biological research in the late 1970s, is now rapidly providing new avenues for diagnosis and treatment. With the early recognition that extensive DNA variation exists in human populations, molecular genetic diagnosis of a variety of common hereditary diseases has become a reality. Recent identification of the location of the gene (or genes) for cystic fibrosis and adult polycystic kidney disease, and characterization of the region of the Duchenne muscular dystrophy gene will lead us towards a better understanding of the basic defects in these diseases. The identification of large multi-generation families with genetic diseases that are useful for identifying gene locations will require the co-operative participation of clinicians, medical geneticists and molecular biologists.
Keywords: molecular genetics, DNA banking
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- Arens M. Q., Swierkosz E. M. Simplified method for typing herpes simplex virus by restriction endonuclease analysis. J Clin Microbiol. 1983 Mar;17(3):548–551. doi: 10.1128/jcm.17.3.548-551.1983. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Birnie G. D., Burns J. H., Wiedemann L. M., Warnock A. M., Tindle R. W., Burnett A. K., Tansey P., Lucie N. P., Robertson M. R. A new approach to the classification of human leukaemias: measurement of the relative abundance of a specific RNA sequence by means of molecular hybridisation. Lancet. 1983 Jan 29;1(8318):197–200. doi: 10.1016/s0140-6736(83)92584-9. [DOI] [PubMed] [Google Scholar]
- Bleeker-Wagemakers L. M., Friedrich U., Gal A., Wienker T. F., Warburg M., Ropers H. H. Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome. Hum Genet. 1985;71(3):211–214. doi: 10.1007/BF00284575. [DOI] [PubMed] [Google Scholar]
- Choo K. H., Gould K. G., Rees D. J., Brownlee G. G. Molecular cloning of the gene for human anti-haemophilic factor IX. Nature. 1982 Sep 9;299(5879):178–180. doi: 10.1038/299178a0. [DOI] [PubMed] [Google Scholar]
- Cohen S. N., Chang A. C., Boyer H. W., Helling R. B. Construction of biologically functional bacterial plasmids in vitro. Proc Natl Acad Sci U S A. 1973 Nov;70(11):3240–3244. doi: 10.1073/pnas.70.11.3240. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Davies K. E., Jackson J., Williamson R., Harper P. S., Ball S., Sarfarazi M., Meredith L., Fey G. Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe. J Med Genet. 1983 Aug;20(4):259–263. doi: 10.1136/jmg.20.4.259. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Friend S. H., Bernards R., Rogelj S., Weinberg R. A., Rapaport J. M., Albert D. M., Dryja T. P. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature. 1986 Oct 16;323(6089):643–646. doi: 10.1038/323643a0. [DOI] [PubMed] [Google Scholar]
- Frydman M., Bonné-Tamir B., Farrer L. A., Conneally P. M., Magazanik A., Ashbel S., Goldwitch Z. Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus. Proc Natl Acad Sci U S A. 1985 Mar;82(6):1819–1821. doi: 10.1073/pnas.82.6.1819. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Gitschier J., Wood W. I., Tuddenham E. G., Shuman M. A., Goralka T. M., Chen E. Y., Lawn R. M. Detection and sequence of mutations in the factor VIII gene of haemophiliacs. 1985 May 30-Jun 5Nature. 315(6018):427–430. doi: 10.1038/315427a0. [DOI] [PubMed] [Google Scholar]
- Gusella J. F., Wexler N. S., Conneally P. M., Naylor S. L., Anderson M. A., Tanzi R. E., Watkins P. C., Ottina K., Wallace M. R., Sakaguchi A. Y. A polymorphic DNA marker genetically linked to Huntington's disease. Nature. 1983 Nov 17;306(5940):234–238. doi: 10.1038/306234a0. [DOI] [PubMed] [Google Scholar]
- Hoar D. I. Familial mutagen sensitivities: are these the hallmarks of meiotic or mutator mutants in humans? Can J Genet Cytol. 1979 Dec;21(4):435–442. doi: 10.1139/g79-048. [DOI] [PubMed] [Google Scholar]
- Kan Y. W., Dozy A. M. Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A. 1978 Nov;75(11):5631–5635. doi: 10.1073/pnas.75.11.5631. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Linn S., Arber W. Host specificity of DNA produced by Escherichia coli, X. In vitro restriction of phage fd replicative form. Proc Natl Acad Sci U S A. 1968 Apr;59(4):1300–1306. doi: 10.1073/pnas.59.4.1300. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Moseley S. L., Huq I., Alim A. R., So M., Samadpour-Motalebi M., Falkow S. Detection of enterotoxigenic Escherichia coli by DNA colony hybridization. J Infect Dis. 1980 Dec;142(6):892–898. doi: 10.1093/infdis/142.6.892. [DOI] [PubMed] [Google Scholar]
- Motulsky A. G. Impact of genetic manipulation on society and medicine. Science. 1983 Jan 14;219(4581):135–140. doi: 10.1126/science.6336852. [DOI] [PubMed] [Google Scholar]
- Nussbaum R. L., Lewis R. A., Lesko J. G., Ferrell R. Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers. Hum Genet. 1985;70(1):45–50. doi: 10.1007/BF00389458. [DOI] [PubMed] [Google Scholar]
- Orkin S. H., Kazazian H. H., Jr The mutation and polymorphism of the human beta-globin gene and its surrounding DNA. Annu Rev Genet. 1984;18:131–171. doi: 10.1146/annurev.ge.18.120184.001023. [DOI] [PubMed] [Google Scholar]
- Reeders S. T., Breuning M. H., Davies K. E., Nicholls R. D., Jarman A. P., Higgs D. R., Pearson P. L., Weatherall D. J. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature. 1985 Oct 10;317(6037):542–544. doi: 10.1038/317542a0. [DOI] [PubMed] [Google Scholar]
- Royer-Pokora B., Kunkel L. M., Monaco A. P., Goff S. C., Newburger P. E., Baehner R. L., Cole F. S., Curnutte J. T., Orkin S. H. Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. Nature. 1986 Jul 3;322(6074):32–38. doi: 10.1038/322032a0. [DOI] [PubMed] [Google Scholar]
- Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]
- Woo S. L., Lidsky A. S., Güttler F., Chandra T., Robson K. J. Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Nature. 1983 Nov 10;306(5939):151–155. doi: 10.1038/306151a0. [DOI] [PubMed] [Google Scholar]