Abstract
THE assignment of the gene for triosephosphate isomerase (TPI, EC 5.3.1.1) on the short arm of chromosome 5 (ref. 1) needs confirmation. Sparkes et al.1 reported diminished activities of TPI in the heterozygous range in a patient with a partial deletion of the short arm of chromosome 5 (cat cry syndrome). Both her parents, however, had normal values of this enzyme and were considered homozygous normal for the TPI gene. The authors concluded that the patient may have been hemizygous for TPI owing to loss of one TPI locus with the deleted chromosomal region. We now report data on five patients with the same chromosome deletion and normal activities of TPI.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 51 print issues and online access
$199.00 per year
only $3.90 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Sparkes, R. S., Carrel, R. E., and Paglia, D. E., Nature, 224, 367 (1969).
Schroeder, H. J., Schleiermacher, E., Schroeder, T. M., Bauer, H., Richter, C., and Schwenk, J., Humangenetik, 4, 294 (1967).
Arakaki, D. T., and Sparkes, R. S., Cytogenetics, 2, 57 (1963).
Beisenherz, G., Methods Enzymol., 1, 387 (1955).
Kaplan, J. C., Teeple, L., Shore, N., and Beutler, E., Biochem. Biophys. Res. Commun., 31, 768 (1968).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
RÜDIGER, H., PASSARGE, E., HIRTH, L. et al. Triosephosphate Isomerase Gene not Localized on the Short Arm of Chromosome 5 in Man. Nature 228, 1320–1321 (1970). https://doi.org/10.1038/2281320a0
Received:
Issue Date:
DOI: https://doi.org/10.1038/2281320a0
This article is cited by
-
The cri du chat syndrome
Human Genetics (1978)
-
On the possible localization of a gene for triosephosphate isomerase on the short arm of human chromosome 5
Humangenetik (1973)
-
Defizienz der kurzen Arme der Chromosomen der B-Gruppe (4p?; 5p?)
Zeitschrift f�r Kinderheilkunde (1971)
Comments
By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.
