Original Article

Molecular defects in alkaptonuria
A. Gehrig^a, S.R. Schmidt^a, C.R. Müller^a, S. Srsen^b, K. Srsnova^b, W. Kress<sup>a

a</sup>Institut für Humangenetik der Universität Würzburg, Würzburg (Germany);
^bJessenius Faculty of Medicine, Komensky University, Martin (Slovak Republic)

Address of Corresponding Author

Cytogenet Cell Genet 1997;76:14-16 (DOI: 10.1159/000134501)

  Abstract

At the dawn of human genetics Sir Archibald Garrod used alkaptonuria as a paradigm to demonstrate the applicability of the Mendelian laws to men and to develop the concept of inborn errors of metabolism. The human cDNA for homogentisate 1,2 dioxygenase was identified due to its homology to the corresponding mouse enzyme and was screened for mutations in alkaptonuric patients from Slovakia. Homozygous mutations were found in four unrelated families and their segregation with the disease was demonstrated. One of the mutations, observed in two families, leads to a frame-shift and thus is unlikely to produce functional protein. The data formally establish the homogentisate 1,2 dioxygenase gene (HGD) as the molecular cause of alkaptonuria and allow for the development of molecular carrier tests in populations at risk.

Copyright © 1997 S. Karger AG, Basel

  Author Contacts

Request reprints from Dr. Wolfram Kress, Institut für Humangenetik, Biozentrum, Am Hubland, D-97074 Würzburg (Germany); telephone: (+)49-931-888-4064; fax: (+)49-931-888-4069; e-mail: wkress@biozentrum.uni-wuerzburg.de

  Article Information

Received: 23 October 1996
Published online: May 20, 2008
Number of Print Pages : 3