Linkage Analyses in Families with Nephrogenic Diabetes Insipidus

Title: Linkage Analyses in Families with Nephrogenic Diabetes Insipidus
Authors: van Oost, Bernard A.; Monnens, Leo A.H.; van der Heyden, H.; Ropers, Hilger H.; Knoers, Nine; Willems, J.
Publisher: Progress in Clinical and Biological Research
Date Published: 1989
Reference Number: 258

This translation by the NDI Foundation is to assist the lay reader. To provide a clear, accessible interpretation of the original article, we eliminated or simplified some technical detail and complicated scientific language. We concentrated our translation on those aspects of the article dealing directly with NDI. The NDI Foundation thanks the researchers for their work toward understanding and more effectively treating this disorder.
© Copyright NDI Foundation 2007 (JC)

As of 1989, researchers had not identified the gene (or genes) responsible for congenital nephrogenic diabetes insipidus (NDI). Knoers, et al., were able to track the location of the NDI-causing gene to a specific region of the X chromosome called the Xq28 region. However, because the genetic markers they used to identify and track the NDI gene did not recombine with the NDI gene, the researchers could not determine its exact location on the X chromosome.

Therefore, the authors refined their analysis by using three additional markers from the Xq27-q28 region. They used these probes to test the genetic material of a family with either NDI or an NDI carrier in three generations of their lineage. These two new markers the researchers used, in conjunction with the four markers used in their previous work, proved useful in refining the localization of the NDI gene. These markers can be tracked to each side of the NDI gene, and this significantly increases the accuracy of both carrier detection and prenatal diagnosis of NDI.