help button home button Endocrine Society JCEM
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
This Article
Right arrow Full Text (PDF)
Right arrow Submit a related Letter to the Editor
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 Request Copyright Permission
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Econs, M. J.
Right arrow Articles by Davis, K. E.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Econs, M. J.
Right arrow Articles by Davis, K. E.

Journal of Clinical Endocrinology & Metabolism, Vol 79, 1351-1354, Copyright © 1994 by Endocrine Society

ARTICLES

Fine structure mapping of the human X-linked hypophosphatemic rickets gene locus

MJ Econs, PS Rowe, F Francis, DF Barker, MC Speer, M Norman, PR Fain, J Weissenbach, A Read and KE Davis
Department of Medicine, Sarah W. Stedman Center For Nutritional Studies, Duke University Medical Center, Durham, North Carolina 27710.

X-linked hypophosphatemic rickets (HYP) is an X-linked dominant disorder characterized by decreased renal tubular phosphate reabsorption and consequent hypophosphatemia. Renal cross- transplantation studies in Hyp mice indicate that the disorder is secondary to the elaboration of an as yet unidentified humoral factor. A full understanding of the pathophysiology of the disease and the nature of this factor will be facilitated by identification of the HYP gene. Efforts to isolate the HYP gene have been deterred by limited precision in the map of the Xp22.1 region and the consequent distance between DXS365 and DXS274, the previously discovered flanking markers for the HYP gene. To map the HYP region precisely, HYP family resources from two groups of investigators were combined, and several newly available microsatellite repeat probes were tested for linkage to HYP. Our data indicate that DXS365, DXS3424, DXS443, DXS1052, DXS274, and DXS1683 are tightly linked to the HYP gene and suggest a locus order of: Xtel-DXS315-(GLR/DXS43)-DXS257-(DXS443+ ++-DXS3424)-DXS365-HYP- DXS1683-DXS1052-DXS 274-(DXS41/DXS92)-DXS451-Xcen. The HYP gene is located in the 350- to 650-kilobase region between DXS365 and DXS1683. These results will provide a basis for the isolation of candidate genes from the region.


This article has been cited by other articles:


Home page
 J. Clin. Endocrinol. Metab.Home page
P. H. Dixon, P. T. Christie, C. Wooding, D. Trump, M. Grieff, I. Holm, J. M. Gertner, J. Schmidtke, B. Shah, N. Shaw, et al.
Mutational Analysis of PHEX Gene in X-Linked Hypophosphatemia
J. Clin. Endocrinol. Metab., October 1, 1998; 83(10): 3615 - 3623.
[Abstract] [Full Text]

Home page
 Am. J. Physiol. Renal Physiol.Home page
M. J. Econs and F. Francis
Positional cloning of the PEX gene: new insights into the pathophysiology of X-linked hypophosphatemic rickets
Am J Physiol Renal Physiol, October 1, 1997; 273(4): F489 - F498.
[Abstract] [Full Text] [PDF]

Home page
 JBJSHome page
F. R. DIETZ and K. D. MATHEWS
Current Concepts Review - Update on the Genetic Bases of Disorders with Orthopaedic Manifestations
J. Bone Joint Surg. Am., October 1, 1996; 78(10): 1583 - 98.
[Full Text]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Endocrinology Endocrine Reviews J. Clin. End. & Metab.
Molecular Endocrinology Recent Prog. Horm. Res. All Endocrine Journals
Copyright © 1994 by The Endocrine Society