Skip to main content
SpringerLink
Log in

Prenatal diagnosis of Tay-Sachs disease. Reflectometry of hexosaminidase A, B, and C/S bands on zymograms

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

Hexosaminidase (Hex) A, B, and C/S were electrophoretically separated from cultured amniotic fluid cells, fetal brain, and white blood cells. Photographs of cellulose acetate zymograms were evaluated by reflectometric scanning. The usefulness and limitations of this rapid method were shown. Hex A was completely absent in the amniotic fluid cells of one out of three pregnancies at risk for Tay-Sachs disease, but Hex C/S was present in this case. The prenatal diagnosis of Tay-Sachs disease was made, and confirmed with the fetal material after abortion. Hex C/S was distinguishable from a residual or “heterozygous” Hex A activity. In the two other risk pregnancies, reflectometric Hex A activities were found to be 50 and 34% of control; the heterozygous stage was presumed for the fetuses.

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

Access this article

Log in via an institution

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

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Besley GTN, Broadhead DM (1976) Studies on human N-acetyl-β-D-hexosaminidase C separated from neonatal brain. Biochem J 155:205–208

    Google Scholar 

  • Beutler E, Kuhl W, Comings D (1975) Hexosaminidase isozyme in type 0 GM2 gangliosidosis (Sandhoff-Jatzkewitz disease). Am J Hum Genet 27:628–638

    Google Scholar 

  • Beutler E, Kuhl W (1975) Subunit structure of human hexosaminidase verified: interconvertibility of hexosaminidase isozymes. Nature 258:262–264

    Google Scholar 

  • Beutler E (1979) The biochemical genetics of the hexosaminidase system in man. Am J Hum Genet 31:95–105

    Google Scholar 

  • Dreyfus JC, Poenaru L (1979) Prenatal diagnosis of Tay-Sachs disease. Lancet 16:1296

    Google Scholar 

  • Ellis RB, Ikonne JU, Patrick AD, Stephens R, Willcox P (1973) Prenatal diagnosis of Tay-Sachs disease. Lancet 17:1144–1145

    Google Scholar 

  • Harzer K, Wässle W, Sandhoff K, Jatzkewitz H (1968) Densitometrische Mikrobestimmung von Lipiden nach Dünnschicht-Chromatographie des Gesamtlipidextraxkts Z Anal Chem 243:527–536

    Google Scholar 

  • Harzer K (1970) Analytische isoelektrische Fraktionierung der N-Acetyl-β-D-Hexosaminidasen. Z Anal Chem 252:170–174

    Google Scholar 

  • Harzer K, Gußmann KI (1981) Zur Diagnostik der metachromatischen Leukodystrophie durch Arylsulfatase-A-Bestimmung im Blut. Arch Psychiatr nervenkr 229:291–304

    Google Scholar 

  • Hooghwinkel GJM, Veltkamp WA, Overdijk B, Lisman JJW (1972) Electrophoretic separation of β-N-acetylhexosaminidases of human and bovine brain and liver and of Tay-Sachs brain tissue. Hoppe-Seyler's Z Physiol Chem 353:839–841

    Google Scholar 

  • Ikonne JU, Rattazzi MC, Desnick RJ (1975) Characterisation of Hex S, the major residual β-hexosaminidase activity in type 0 GM2 gangliosidosis (Sandhoff-Jatzkewitz disease). Am J Hum Genet 27:639–650

    Google Scholar 

  • Lowry OH, Rosenbrough NJ, Farr AL, Randall RJ (1951) Protein measurement with the Folin phenol reagent. J Biol Chem 193:265–275

    Google Scholar 

  • Michael CA, Hahnel R, Hockey A, Wysocki S (1974) Pitfalls in the prenatal diagnosis of Tay-Sachs disease. Aust Paediatr J 10:23–24

    Google Scholar 

  • Milunsky A (1973) Prenatal diagnosis of Tay-Sachs disease. Lancet 22:1442

    Google Scholar 

  • Minami R, Nakumura F, Oyanagi K, Nakao T (1981) Hexosaminidase C in brain affected by Tay-Sachs disease. Tohoku J Exp Med 133:175–185

    Google Scholar 

  • O'Brien JS, Okada S, Fillerup, DL, Veath ML, Adornato B, Brenner PH, Leroy JG (1971) Tay-Sachs disease: Prenatal diagnosis. Science 172:61–64

    Google Scholar 

  • Okada S, O'Brien JS (1969) Tay-Sachs disease: generalized absence of a β-D-N-acetylhexosaminidase component. Science 165:698–700

    Google Scholar 

  • Penton E, Poenaru L, Dreyfus JC (1975) Hexosaminidase C in Tay-Sachs and Sandhoff disease. Biochim Biophys Acta 391:162–169

    Google Scholar 

  • Potier M, Boire G, Dallaire L, Melancon SB (1977) N-acetyl-β-hexosaminidase isoenzymes of amniotic fluid and maternal serum. Their relevance to prenatal diagnosis of the GM2 gangliosidoses. Clin Chim Acta 76:309–315

    Google Scholar 

  • Saifer A, Schneck L, Perle G, Valenti C, Volk BW (1973) Caveats of antenatal diagnosis of Tay-Sachs disease. Am J Obstet Gynecol 115:553–555

    Google Scholar 

  • Sandhoff K, Andrease U, Jatzkewitz H (1968) Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs. Life Sci 7:278–285

    Google Scholar 

  • Swallow DM, Evans L, Saha N, Harris H (1976) Characterization and tissue distribution of N-acetyl-hexosaminidase C: suggestive evidence for a separate hexosaminidase locus. Ann Hum Genet 40:55–66

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institute of Brain Research, University of Tübingen, Belthlestr. 15, D-7400, Tübingen, Germany

    B. Kustermann-Kuhn & K. Harzer

Authors
  1. B. Kustermann-Kuhn
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. K. Harzer
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kustermann-Kuhn, B., Harzer, K. Prenatal diagnosis of Tay-Sachs disease. Reflectometry of hexosaminidase A, B, and C/S bands on zymograms. Hum Genet 65, 172–175 (1983). https://doi.org/10.1007/BF00286657

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00286657

Keywords

Search

Navigation