Nephrogenic Diabetes Insipidus: Close Linkage with Markers from the Distal Long Arm of the Human X Chromosome
| Title: | Nephrogenic Diabetes Insipidus: Close Linkage with Markers from the Distal Long Arm of the Human X Chromosome |
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| Authors: | van Oost, Bernard A.; Monnens, Leo A.H.; van der Heyden, H.; Ropers, Hilger H.; Knoers, Nine; Willems, J. |
| Publisher: | Human Genetics |
| Date Published: | September 01, 1988 |
| Reference Number: | 259 |
Ten families with nephrogenic diabetes insipidus (NDI) have been analysed for restriction fragment length polymorphisms (RFLPs). A search for linkage was performed using various chromosome-specific single-copy DNA probes of known regional assignment to the human X chromosome. Close linkage was found between the disease locus and the markers DXS52, DXS15, DXS134 and the F8 gene. This result assigns the NDI gene to the subtelomeric region of the long arm of the X chromosome. The regional localization of the gene by the identification of closely linked markers should have repercussions for genetic counselling and prevention in NDI families.
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)
Knoers, et al., took blood samples containing DNA material from a group of ten families with NDI patients. In all they had 19 NDI patients and 95 family members to draw from. They used seven DNA markers whose position on the X chromosome was known. Tight linkage was found between the NDI gene and four of the markers: DXS15, DXS52, F8 and DXS134. All these markers are located within band Xq28 on the X chromosome and are closely linked. Therefore, it is likely the NDI gene is also located in the Xq28 region of the X chromosome. Further, since all the families showed this linkage, it is likely that there is only a single gene responsible for NDI.
The authors found no evidence of a reciprocal exchange of genetic material between the NDI gene and each of the four markers. Thus, they could not determine where the NDI gene was positioned in relation to the markers. However, the observed lack of exchange between NDI and the four Xq28 markers suggests that the physical distance between them is very small. These closely linked markers should help diagnosticians determine if females in NDI families carry the NDI gene. This should also enable clinicians to perform accurate prenatal diagnosis of fetuses in NDI families. Such early detection can ensure timely and appropriate management of NDI, which can help prevent any complication of this disorder from arising.