Skip to main content
Journal of Clinical Pathology logoLink to Journal of Clinical Pathology
. 1987 Sep;40(9):959–970. doi: 10.1136/jcp.40.9.959

Molecular pathology of single gene disorders.

D J Weatherall 1
PMCID: PMC1141165  PMID: 3312305

Abstract

Recent studies using recombinant DNA technology have led to an understanding of the basic molecular pathology of single gene disorders. Furthermore, methods are being developed for finding genes for conditions, whose underlying biochemistry is still not understood, or which may contribute to polygenic systems that underlie common diseases. As well as providing new approaches to carrier detection, prenatal diagnosis, and treatment of single gene disorders, these advances promise to provide important information about the pathophysiology of many common polygenic diseases.

Full text

PDF
959

Selected References

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

  1. Bentley A. K., Rees D. J., Rizza C., Brownlee G. G. Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4. Cell. 1986 May 9;45(3):343–348. doi: 10.1016/0092-8674(86)90319-3. [DOI] [PubMed] [Google Scholar]
  2. Bishop J. M. The molecular genetics of cancer. Science. 1987 Jan 16;235(4786):305–311. doi: 10.1126/science.3541204. [DOI] [PubMed] [Google Scholar]
  3. Brown M. S., Goldstein J. L. A receptor-mediated pathway for cholesterol homeostasis. Science. 1986 Apr 4;232(4746):34–47. doi: 10.1126/science.3513311. [DOI] [PubMed] [Google Scholar]
  4. Choi Y. D., Grabowski P. J., Sharp P. A., Dreyfuss G. Heterogeneous nuclear ribonucleoproteins: role in RNA splicing. Science. 1986 Mar 28;231(4745):1534–1539. doi: 10.1126/science.3952495. [DOI] [PubMed] [Google Scholar]
  5. Cooper D. N., Schmidtke J. Diagnosis of genetic disease using recombinant DNA. Hum Genet. 1986 May;73(1):1–11. doi: 10.1007/BF00292654. [DOI] [PubMed] [Google Scholar]
  6. Davies K. E., Robson K. J. Molecular analysis of human monogenic diseases. Bioessays. 1987 Jun;6(6):247–253. doi: 10.1002/bies.950060602. [DOI] [PubMed] [Google Scholar]
  7. Gusella J. F. DNA polymorphism and human disease. Annu Rev Biochem. 1986;55:831–854. doi: 10.1146/annurev.bi.55.070186.004151. [DOI] [PubMed] [Google Scholar]
  8. Lawn R. M. The molecular genetics of hemophilia: blood clotting factors VIII and IX. Cell. 1985 Sep;42(2):405–406. doi: 10.1016/0092-8674(85)90094-7. [DOI] [PubMed] [Google Scholar]
  9. Leatherbarrow R. J., Fersht A. R. Protein engineering. Protein Eng. 1986 Oct-Nov;1(1):7–16. doi: 10.1093/protein/1.1.7. [DOI] [PubMed] [Google Scholar]
  10. Nathans J., Piantanida T. P., Eddy R. L., Shows T. B., Hogness D. S. Molecular genetics of inherited variation in human color vision. Science. 1986 Apr 11;232(4747):203–210. doi: 10.1126/science.3485310. [DOI] [PubMed] [Google Scholar]
  11. Nicholls R. D., Fischel-Ghodsian N., Higgs D. R. Recombination at the human alpha-globin gene cluster: sequence features and topological constraints. Cell. 1987 May 8;49(3):369–378. doi: 10.1016/0092-8674(87)90289-3. [DOI] [PubMed] [Google Scholar]
  12. Orkin S. H. Reverse genetics and human disease. Cell. 1986 Dec 26;47(6):845–850. doi: 10.1016/0092-8674(86)90799-3. [DOI] [PubMed] [Google Scholar]
  13. Prchal J. T., Cashman D. P., Kan Y. W. Hemoglobin Long Island is caused by a single mutation (adenine to cytosine) resulting in a failure to cleave amino-terminal methionine. Proc Natl Acad Sci U S A. 1986 Jan;83(1):24–27. doi: 10.1073/pnas.83.1.24. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Vanin E. F., Henthorn P. S., Kioussis D., Grosveld F., Smithies O. Unexpected relationships between four large deletions in the human beta-globin gene cluster. Cell. 1983 Dec;35(3 Pt 2):701–709. doi: 10.1016/0092-8674(83)90103-4. [DOI] [PubMed] [Google Scholar]
  15. Vidaud M., Chabret C., Gazengel C., Grunebaum L., Cazenave J. P., Goossens M. A de novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B. Blood. 1986 Oct;68(4):961–963. [PubMed] [Google Scholar]
  16. Weatherall D. J. The regulation of the differential expression of the human globin genes during development. J Cell Sci Suppl. 1986;4:319–336. doi: 10.1242/jcs.1986.supplement_4.18. [DOI] [PubMed] [Google Scholar]
  17. Wetzel R. What is protein engineering? Protein Eng. 1986 Oct-Nov;1(1):3–5. doi: 10.1093/protein/1.1.3. [DOI] [PubMed] [Google Scholar]
  18. Williams D. A., Orkin S. H. Somatic gene therapy. Current status and future prospects. J Clin Invest. 1986 Apr;77(4):1053–1056. doi: 10.1172/JCI112403. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Journal of Clinical Pathology are provided here courtesy of BMJ Publishing Group

RESOURCES