Skip to main content

Advertisement

Log in

Biochemical diagnosis of genetic disease

  • Published:
Experientia Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  1. Alter, B. P., Prenatal diagnosis of haemoglobinopathies and other hematologic diseases. J. Pediat.95 (1979) 501–513.

    Article  Google Scholar 

  2. Angastiniotis, M. A., and Hadjiminas, M. G., Prevention of thalassemia in Cyprus. Lancet1 (1981) 369.

    Article  Google Scholar 

  3. D'Azzo, A., Hoogeveen, A. T., Reuser, A. J. J., Robinson, D., and Galjaard, H., Molecular defect in combined β-galactosidase and neuraminidase deficiency. Proc. natn. Acad. Sci.79 (1982) 4535–4539.

    Article  Google Scholar 

  4. Bakker, E., Goor, H., Wrogeman, K., and Kunkel, L. M., Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLP's. Lancet1 (1985) 655–658.

    Article  Google Scholar 

  5. Barranger, J., and Brady, R. O., Molecular Basis of Lysosomal Storage Disorders, Academic Press, New York 1984.

    Google Scholar 

  6. Bickel, H., Guthrie, R., and Hammersen, G., (Eds.), Neonatal Screening for Inborn Errors of Metabolism. Springer Verlag, Berlin/New York 1980.

    Google Scholar 

  7. Bremer, H. J., Duran, M., Kamerling, J. P., Przyrembel, H., and Wadman, S. K., Disturbances of Amino Acid Metabolism: Clinical Chemistry and Diagnosis. Urban and Schwarzenberg Baltimore/Munich 1981.

    Google Scholar 

  8. Camerino, G., Mattei, M. G., Mattei, J. F., Jaye, M., and Mandel, J. L., Close linkage fragile X-mental retardation syndrome to haemophilia B and transmission through a normal male. Nature306 (1983) 761.

    Article  Google Scholar 

  9. Cavanee, W. K., Dryja, T. P., Phillips, R. A., Benedict, W. F., Godbout, R., Gallie, B. L., Murphree, A. L., Strong, L. C., and White, R. L., Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature305 (1983) 779–784.

    Article  Google Scholar 

  10. Conzelmann, E., and Sandhoff, K., AB variant of infantile GM2-gangliosidosis. Deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside. Proc. natn. Acad. Sci.75 (1978) 3979–3983.

    Article  Google Scholar 

  11. Davies, K. E., Pearson, P. L., Harper, P. S., Murray, J. B., O'Brien, T., Sarfarazi, M., and Williamson, R., Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. Nucl. Acids Res.11 (1983) 2303–2311.

    Article  Google Scholar 

  12. Van Dongen, J. M., Barneveld, R. A., Geuze, H. J., and Galjaard, H., Immunocytochemistry of lysosomal hydrolases and their precursor forms in normal and mutant human cells. Histochem. J.16 (1984) 941–954.

    Article  Google Scholar 

  13. Emery, A. E. H., Watt, M. S., and Clark, E. R., The effect of genetic counselling in Duchenne muscular dystrophy. Clin. Genet.3 (1972) 147–150.

    Article  Google Scholar 

  14. Fraccaro, M., Brambati, B., and Simoni, G. (Eds), First Trimester Fetal Diagnosis. Springer Verlag, Berlin 1985.

    Google Scholar 

  15. Galjaard, H., Genetic Metabolic Diseases; Early Diagnosis and Prenatal Analysis. Elsevier, Amsterdam/New York 1980.

    Google Scholar 

  16. Galjaard, H. (Ed.), The Future of Prenatal Diagnosis. Churchill Livingstone, Edinburgh 1982.

    Google Scholar 

  17. Galjaard, H., and Kleijer, W. J., Biochemical analysis of chorionic villi, in: Chorionic Villus Sampling, pp. 131–152. Eds B. Brambati, G. Simoni and S. Fabro, Marcel Dekker, New York.

  18. Galjaard, H., and Reuser, A. J. J., Genetic aspects of lysosomal storage diseases, in: Lysosomes in Biology and Pathology, vol. 7, pp. 315–346. Eds J. T. Dingle, R. T. Dean and W. Sly, Elsevier, Amsterdam/New York 1984.

    Google Scholar 

  19. Geuze, H., Slot, J. W., van der Ley, P. A., Scheffer, R. C. T., and Griffith, J. M., Use of colloidal gold particles in double labeling immunoelectron microscopy of ultrathin frozen sections. J. Cell Biol.89 (1981) 653–665.

    Article  Google Scholar 

  20. Goodman, S. I., and Markey, S. P., Diagnosis of organic acidemias by gas chromatography — mass spectrometry, in: Laboratory and Research Methods in Biology and Medicine, vol. 6. Alan R. Liss, New York 1981.

    Google Scholar 

  21. Goossens, M., Dumez, Y., and Kaplan, L., Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy. New Engl. J. Med.309 (1983) 831–833.

    Article  Google Scholar 

  22. Gusella, J., Wexler, N. S., Conneally, P. M., Naylor, S. L., and Anderson, M. A., A polymorphic DNA genetically linked to Huntington's disease. Nature306 (1983) 234–238.

    Article  Google Scholar 

  23. Hasilik, A., and Neufeld, E. F., Biosynthesis of lysosomal enzymes in fibroblasts. J. biol. Chem.255 (1980) 4937–4950.

    Article  Google Scholar 

  24. Hasilik, A., and Von Figura, K., Processing of lysosomal enzymes in fibroblasts, in: Lysosomes in Biology and Pathology, vol. 7, pp. 3–16. Eds J. T. Dingle, R. T. Dean and W. Sly. Elsevier, Amsterdam/New York 1984.

    Google Scholar 

  25. Hasilik, A., Waheed, A., and Von Figura, K., Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetyl-glucosamine; absence of the activity in I-cell fibroblasts. Biochem. biophys. Res. Comm.98 (1981) 761–767.

    Article  Google Scholar 

  26. Hoogeveen, A. T., Verheijen, F. W., and Galjaard, H., The relation between human lysosomal β-galactosidase and its protective protein. J. biol. Chem.258 (1983) 12143–12146.

    Article  Google Scholar 

  27. Hoogeveen, A. T., Graham-Kawashima, H., d'Azzo, A., and Galjaard, H., Processing of human β-galactosidase in GMI-gangliosidosis and Magnio B syndrome. J. biol. Chem.259 (1984) 1974–1977.

    Article  Google Scholar 

  28. Jakobs, C. A. J. M., Contribution to the prenatal diagnosis of inherited metabolic disorders; analysis of metabolites in amniotic fluid. Thesis, State University of Utrecht, Utrecht 1983.

    Google Scholar 

  29. Kaback, M. M. (Ed.), Tay-Sachs Disease: Screening and Prevention. Alan R. Liss, New York 1977.

    Google Scholar 

  30. Kaback, M. M., Heterozygote screening and prenatal diagnosis in Tay-Sachs disease: a world-wide update, in: Lysosomes and Lysosomal Storage Diseases, pp. 331–342. Eds J. W. Callahan and A. J. Lowden. Raven, New York 1981.

    Google Scholar 

  31. Kan, Y. W., and Dozy, A. M., Polymorphism of DNA sequence adjacent to human β-globin structural gene. Proc. natn. Acad. Sci.75 (1978) 5361–5635.

    Article  Google Scholar 

  32. Kazy, Z., Rozovsky, I. S., and Bakharev, V. A., Chorion biopsy in early pregnancy: a method of early prenatal diagnosis for inherited disorders. Prenatal Diagnosis2 (1982) 39–45.

    Article  Google Scholar 

  33. Kleijer, W. J., van Diggelen, O. P., Janse, H. C., Galjaard, H., Dumez, Y., and Boué, J., First-trimester diagnosis of Hunter syndrome on chorionic villi. Lancet2 (1984) 472.

    Article  Google Scholar 

  34. Kleijer, W. J., Thoomes, R., Galjaard, H., Wendel, U., and Fowler, B., First trimester diagnosis of citrullinemia and methylmalonaciduria. Lancet2 (1984) 1340.

    Article  Google Scholar 

  35. Kleijer, W. J., Mancini, G., Jahoda, M., Vosters, R., Sachs, E., Niermeyer, M. f., and Galjaard, H., First trimester diagnosis of Krabbe's disease by direct enzyme analysis in chorionic villi. New Engl. J. Med.311 (1984) 1257.

    Article  Google Scholar 

  36. Li, Y.-T., and Li, S. C., Activator proteins related to the hydrolysis of glycosphingolipids catalyzed by lysosomal glycosidases, in: Lysosomes in Biology and Pathology, vol. 7, pp. 99–118. Eds J. T. Dingle, R. T. Dingle and W. Sly, Elsevier, Amsterdam/New York 1984.

    Google Scholar 

  37. McKusick, V. A., Mendelian Inheritance in Man, 6th edn. The Johns Hopkins University Press, Baltimore 1983.

    Google Scholar 

  38. Milunsky, A., (Ed.), Genetic disorders and the Fetus, 2nd edn. Plenum, New York 1986.

    Google Scholar 

  39. Modell, B., Social aspects of prenatal monitoring of genetic diseases, in: The Future of Prenatal Diagnosis, pp. 146–160. Ed. H. Galjaard. Churchill Livingstone, Edinburgh 1982.

    Google Scholar 

  40. Motulsky, A. G., Fraser, G. R., and Felsenstein, J., Public health and long term implications and intrauterine diagnosis and selective abortion. Birth Defects Original Article Series, vol. 7, No. 5, pp. 22–23. Natl Found. March of Dimes.

  41. Neufeld, E. F., Recognition and processing of lysosomal enzymes in cultured fibroblasts, in: Lysosomes and Lysosomal Storage Diseases, pp. 115–130. Eds J. W. Callahan and J. A. Lowden. Raven, New York 1981.

    Google Scholar 

  42. Newmark, P., Molecular diagnostic medicine. News and views. Nature307 (1984) 11–12.

    Article  Google Scholar 

  43. Nienhuis, A. W., Anagnon, N. P., and Ley, T. J., Advances in thalassemia research (review) Blood63 (1984) 738–758.

    Article  Google Scholar 

  44. O'Brien, T. O., Sibert, J. R., and Harper, P. S., Implications of diagnostic delay in Duchenne muscular dystrophy. Br. med. J.287 (1983) 1106–1107.

    Article  Google Scholar 

  45. Old, J. M., Ward, K. H. T., Karagozlu, F., Petron, M., Modell, B., and Weatherall, D. J., First trimester fetal diagnosis for haemoglobinopathies: three cases. Lancet2 (1982) 1413–1416.

    Article  Google Scholar 

  46. Orkin, S. H., Markham, A. F., and Kazazian, H. H., Direct detection of the common Mediterranean β-thalassemia gene with synthetic DNA probes. J. clin. Invest.71 (1983) 775–779.

    Article  Google Scholar 

  47. Patrick, A. D., Prenatal diagnosis of inherited metabolic disease, in: Proc. Eleventh Study Group of the Royal College of Obstetricians and Gynecologists, pp. 121–137. Eds C. H. Rodeck and K. H. Nicolaides. Royal College, London.

  48. Pergament, E., Ginsberg, N., Verlinsky, Y., Cadkin, A., Chu, K., and Truka, L., Prenatal Tay-Sachs diagnosis by chorionic villi sampling. Lancet1 (1983) 286.

    Article  Google Scholar 

  49. Proia, R. L., d'Azzo, A., and Neufeld, E. F., Association of α- and β-subunits during the biosynthesis of β-hexosaminidase in cultured fibroblasts. J. biol. Chem.259 (1984) 3350–3354.

    Article  Google Scholar 

  50. Reitman, M. L., Varki, A., and Kornfeld, S., Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in UDP-N-acetylglucosaminyl-phospho transferase activities. J. clin. Invest.67 (1981) 1574–1579.

    Article  Google Scholar 

  51. Reuser, A. J. J., Kroos, M., Oude Elferink, R. P. J., and Tager, J., Defects in synthesis, phosphorylaiton and maturation of acid α-glucosidase in glycogenosis II, J. biol. Chem.280 (1985) 8336–8341.

    Article  Google Scholar 

  52. Rosenberg, L., Disorders of propionate and methylmalonate metabolism, in: The Metabolic Basis of Inherited Disease, 5th edn, pp. 474–497. Eds J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, J. Goldstein and M. S. Brown. McGraw-Hill, New York 1983.

    Google Scholar 

  53. Simoni, G., Brambati, B., Danesino, C., Rossella, F., Terzoli, G. L., Ferrari, M., and Fraccaro, M., Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Hum. Genet.63 (1983) 349–357.

    Article  Google Scholar 

  54. Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., Goldstein, J. L., and Brown, M. S. (Eds), The Metabolic Basis of Inherited Disease, 5th edn. McGraw-Hill, New York 1983.

    Google Scholar 

  55. Steckel, F., Gieselmann, V., Waheed, A., Hasilik, A., Von Figura, K., Oude Elferink, R., Kalsbeek, R., and Tager, J. M., Biosynthesis of acid α-glucosidase in late onset forms of glycogenosis II (Pompe's disease). FEBS Lett.150 (1982) 69–76.

    Article  Google Scholar 

  56. Verheijen, R. W., Brossmer, R., and Galjaard, H., purification of acid β-galactosidase and acid neuraminidase from bovine testes: evidence for an enzyme complex. Biochem. biophys. Res. Comm.108 (1982) 868–875.

    Article  Google Scholar 

  57. Verheijen, F., Palmeri, S., Hoogeveen, A., and Galjaard, H., Human placental neuraminidase. Eur. J. Biochem.149 (1985) 315–321.

    Article  Google Scholar 

  58. Watts, R. W. E., Diagnostic and metabolic investigation and treatment of the acutely ill newborn with particular reference to some of the inborn errors of metabolism, in: Screening and Management of Potentially Treatable Genetic Metabolic Disorders, pp. 127–142. Ed. P. F. Benson, MTP Press, Lancaster 1984.

    Chapter  Google Scholar 

  59. Wells, N., Birth impairements, Office of Health Economics. London 1978.

  60. Williamson, R. (Ed.), Genetic Engineering, vols 1–4. Academic Press, New York 1981–1984.

    Google Scholar 

  61. Weatherall, D. J., and Clegg, J. G., Thalassemia syndromes, 4th edn. Blackwell, Oxford 1985.

    Google Scholar 

  62. Weatherhall, D. J., Old, J., Theis, S. L., Wainscoat, J. S., and Clegg, J. B., Prenatal diagnosis of the common haemoglobin disorders. J. med. Genet22 (1985) 422–430.

    Article  Google Scholar 

  63. Woo, S. L. C., Lidsky, A. S., Güttler, F., Chandra, T., and Robson, J. H., Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Nature306 (1983) 151–155.

    Article  Google Scholar 

  64. World Health Organization: Report on the community control of hereditary anemias. Geneva 1981.

  65. World Health Organization: Report on perspectives in fetal diagnosis of hereditary diseases, Geneva 1984. Eds A. Kuliev, B. Modell and H. Galjaard. Serono Symposia Review No. 8, Rome 1985.

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Galjaard, H. Biochemical diagnosis of genetic disease. Experientia 42, 1075–1085 (1986). https://doi.org/10.1007/BF01941280

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01941280

Key words

Navigation