Clinical Chemistry AACC Online Job Center
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Clinical Chemistry 20: 538-543, 1974;
This Article
Right arrow Full Text (PDF)
Right arrow Submit an electronic Letter to
the Editor about this paper
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Saifer, A.
Right arrow Articles by Perle, G.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Saifer, A.
Right arrow Articles by Perle, G.

Clinical Chemistry, Vol 20, 538-543, Copyright © 1974 by the American Association for Clinical Chemistry

Automated Determination of Serum Hexosaminidase A by pH Inactivation for Detection of Tay-Sachs Disease Heterozygotes

Abraham Saifer 1 and Guta Perle 1

1 Biochemistry Department, Isaac Albert Research Institute of the Kingsbrook Jewish Medical Center, Brooklyn, N. Y. 11203.

We have automated a manual test for detection of heterozygotes of Tay-Sachs disease by assay of hexosaminidase A in serum, based on pH inactivation [Clin. Chim. Acta 43, 417 (1973)]. The same manifold is used both for the total hexosaminidase and pH-inactivation (hexosaminidase B) procedures. Automation expedites mass screening of the Ashkenazi Jewish population for carriers of the Tay-Sachs gene (prevalence rate, 1:30), because 100 or more tests can be performed daily. The mean percentage value and range (±2 SD) of hexosaminidase A for normal adults is 68.6 (58-79) and for carriers is 48.8 (39-59) with the automated pH-inactivation procedure. "Presumed carriers" (<53% hexosaminidase A) and individuals in the uncertain range (53 to 58%) should be retested by using leukocytes, to avoid the effect of certain physical ailments, before being labeled as carriers. The same automated system used for this assay can also be used to detect carriers of at least seven other sphingolipidoses for which artificial fluorogenic substrates are available.


Key Words: carrier detection • AutoAnalyzer • fluorometric enzyme assay • automated pH-inactivation • comparison with manual heat-denaturation method • mass screening • sphingolipidoses • lipid storage diseases • normal values

Submitted on December 31, 1973
Accepted on February 19, 1974




The following articles in journals at HighWire Press have cited this article:


Home page
 J. Neurosci.Home page
A. Cressant, N. Desmaris, L. Verot, T. Brejot, R. Froissart, M.-T. Vanier, I. Maire, and J. M. Heard
Improved Behavior and Neuropathology in the Mouse Model of Sanfilippo Type IIIB Disease after Adeno-Associated Virus-Mediated Gene Transfer in the Striatum
J. Neurosci., November 10, 2004; 24(45): 10229 - 10239.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
L. F. Perez and J. C. Tutor
Assay of ß-N-acetylhexosaminidase isoenzymes in different biological specimens by means of determination of their activation energies
Clin. Chem., February 1, 1998; 44(2): 226 - 231.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 1974 by the American Association for Clinical Chemistry.