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The British Journal of Cancer. Supplement logoLink to The British Journal of Cancer. Supplement
. 1988 Dec;9:14–16.

The molecular genetics of complex inherited diseases.

R Williamson 1
PMCID: PMC2149106  PMID: 3076062

Abstract

The majority of inherited diseases are due to unknown biochemical defects, or are either polygenetic or multifactorial. Due to advances in molecular genetics, it is now possible to study these conditions, either by reverse genetics (using cloning techniques to move from linkage to gene, and then determining the protein involved) or by dissecting a complex disease into a set of monogenic paradigms.

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Selected References

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

  1. Beaudet A., Bowcock A., Buchwald M., Cavalli-Sforza L., Farrall M., King M. C., Klinger K., Lalouel J. M., Lathrop G., Naylor S. Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study. Am J Hum Genet. 1986 Dec;39(6):681–693. [PMC free article] [PubMed] [Google Scholar]
  2. Botstein D., White R. L., Skolnick M., Davis R. W. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet. 1980 May;32(3):314–331. [PMC free article] [PubMed] [Google Scholar]
  3. Eiberg H., Mohr J., Schmiegelow K., Nielsen L. S., Williamson R. Linkage relationships of paraoxonase (PON) with other markers: indication of PON-cystic fibrosis synteny. Clin Genet. 1985 Oct;28(4):265–271. doi: 10.1111/j.1399-0004.1985.tb00400.x. [DOI] [PubMed] [Google Scholar]
  4. 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]
  5. Estivill X., Scambler P. J., Wainwright B. J., Hawley K., Frederick P., Schwartz M., Baiget M., Kere J., Williamson R., Farrall M. Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics. 1987 Nov;1(3):257–263. doi: 10.1016/0888-7543(87)90052-8. [DOI] [PubMed] [Google Scholar]
  6. Farrall M., Estivill X., Williamson R. Indirect cystic fibrosis carrier detection. Lancet. 1987 Jul 18;2(8551):156–157. doi: 10.1016/s0140-6736(87)92354-3. [DOI] [PubMed] [Google Scholar]
  7. Farrall M., Law H. Y., Rodeck C. H., Warren R., Stanier P., Super M., Lissens W., Scambler P., Watson E., Wainwright B. First-trimester prenatal diagnosis of cystic fibrosis with linked DNA probes. Lancet. 1986 Jun 21;1(8495):1402–1405. doi: 10.1016/s0140-6736(86)91553-9. [DOI] [PubMed] [Google Scholar]
  8. Ivens A., Moore G., Williamson R. Molecular approaches to dysmorphology. J Med Genet. 1988 Jul;25(7):473–479. doi: 10.1136/jmg.25.7.473. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Knowlton R. G., Cohen-Haguenauer O., Van Cong N., Frézal J., Brown V. A., Barker D., Braman J. C., Schumm J. W., Tsui L. C., Buchwald M. A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7. 1985 Nov 28-Dec 4Nature. 318(6044):380–382. doi: 10.1038/318380a0. [DOI] [PubMed] [Google Scholar]
  10. Kogan S. C., Doherty M., Gitschier J. An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A. N Engl J Med. 1987 Oct 15;317(16):985–990. doi: 10.1056/NEJM198710153171603. [DOI] [PubMed] [Google Scholar]
  11. Leck I. The geographical distribution of neural tube defects and oral clefts. Br Med Bull. 1984 Oct;40(4):390–395. doi: 10.1093/oxfordjournals.bmb.a072010. [DOI] [PubMed] [Google Scholar]
  12. Mornet E., Simon-Bouy B., Serre J. L., Estivill X., Farrall M., Williamson R., Boue J., Boue A. Genetic differences between cystic fibrosis with and without meconium ileus. Lancet. 1988 Feb 20;1(8582):376–378. doi: 10.1016/s0140-6736(88)91180-4. [DOI] [PubMed] [Google Scholar]
  13. Poustka A., Pohl T. M., Barlow D. P., Frischauf A. M., Lehrach H. Construction and use of human chromosome jumping libraries from NotI-digested DNA. Nature. 1987 Jan 22;325(6102):353–355. doi: 10.1038/325353a0. [DOI] [PubMed] [Google Scholar]
  14. Pritchard C. A., Goodfellow P. N. Investigation of chromosome-mediated gene transfer using the HPRT region of the human X chromosome as a model. Genes Dev. 1987 Apr;1(2):172–178. doi: 10.1101/gad.1.2.172. [DOI] [PubMed] [Google Scholar]
  15. Scambler P. J., Law H. Y., Williamson R., Cooper C. S. Chromosome mediated gene transfer of six DNA markers linked to the cystic fibrosis locus on human chromosome seven. Nucleic Acids Res. 1986 Sep 25;14(18):7159–7174. doi: 10.1093/nar/14.18.7159. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Scambler P. J., Wainwright B. J., Farrall M., Bell J., Stanier P., Lench N. J., Bell G., Kruyer H., Ramirez F., Williamson R. Linkage of COL1A2 collagen gene to cystic fibrosis, and its clinical implications. Lancet. 1985 Nov 30;2(8466):1241–1242. doi: 10.1016/s0140-6736(85)90765-2. [DOI] [PubMed] [Google Scholar]
  17. Schwartz D. C., Cantor C. R. Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis. Cell. 1984 May;37(1):67–75. doi: 10.1016/0092-8674(84)90301-5. [DOI] [PubMed] [Google Scholar]
  18. Solomon E., Bodmer W. F. Evolution of sickle variant gene. Lancet. 1979 Apr 28;1(8122):923–923. doi: 10.1016/s0140-6736(79)91398-9. [DOI] [PubMed] [Google Scholar]
  19. Tabor A., Andersen O., Lundsteen C., Niebuhr E., Sardemann H. Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother. Hum Genet. 1983;64(2):196–199. doi: 10.1007/BF00327127. [DOI] [PubMed] [Google Scholar]
  20. Tsui L. C., Buchwald M., Barker D., Braman J. C., Knowlton R., Schumm J. W., Eiberg H., Mohr J., Kennedy D., Plavsic N. Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science. 1985 Nov 29;230(4729):1054–1057. doi: 10.1126/science.2997931. [DOI] [PubMed] [Google Scholar]
  21. 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]
  22. White R., Woodward S., Leppert M., O'Connell P., Hoff M., Herbst J., Lalouel J. M., Dean M., Vande Woude G. A closely linked genetic marker for cystic fibrosis. 1985 Nov 28-Dec 4Nature. 318(6044):382–384. doi: 10.1038/318382a0. [DOI] [PubMed] [Google Scholar]
  23. Williamson R. Cloned genes and their use in the analysis of inherited disease. Third Wellcome Trust lecture. Biochem Soc Trans. 1985 Oct;13(5):807–811. doi: 10.1042/bst0130807. [DOI] [PubMed] [Google Scholar]

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