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J Clin Invest. 1997 Dec 1;100(11):2653-7.

Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13.

Author information

1
Department of Medicine, Duke University Medical Center and the Durham Veterans Affairs Medical Center, Durham, North Carolina 27710, USA. mecons@iupiu.edu

Abstract

Autosomal dominant hypophosphatemic rickets (ADHR) is an inherited disorder of isolated renal phosphate wasting, the pathogenesis of which is unknown. We performed a genome-wide linkage study in a large kindred to determine the chromosome location of the ADHR gene. Two-point LOD scores indicate that the gene is linked to the markers D12S314 [Z(theta) = 3.15 at theta = 0.0], vWf [Z(theta) = 5.32 at theta = 0.0], and CD4 [Z(theta) = 3.53 at theta = 0.0]. Moreover, multilocus analysis indicates that the ADHR gene locus is located on chromosome 12p13 in the 18-cM interval between the flanking markers D12S100 and D12S397. These data are the first to establish a chromosomal location for the ADHR locus and to provide a framework map to further localize the gene. Such studies will permit ultimate identification of the ADHR gene and provide further insight into phosphate homeostasis.

PMID:
9389727
PMCID:
PMC508467
DOI:
10.1172/JCI119809
[Indexed for MEDLINE]
Free PMC Article
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