Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1987 Dec;24(12):756-60.
doi: 10.1136/jmg.24.12.756.

Bridging markers defining the map position of X linked hypophosphataemic rickets

R V Thakker  1 , A P Read, K E Davies, M P Whyte, R Weksberg, F Glorieux, M Davies, R C Mountford, R Harris, A King, et al.
Affiliations

Bridging markers defining the map position of X linked hypophosphataemic rickets

R V Thakker et al. J Med Genet. 1987 Dec.

Abstract

Hypophosphataemic rickets is commonly an X linked dominant hereditary disorder associated with a renal tubular defect in phosphate transport and bone deformities. The gene causing this disorder has been mapped to Xp22.31----p21.3 by using cloned human X chromosome sequences identifying restriction fragment length polymorphisms (RFLPs) in linkage studies of affected families. The hypophosphataemic rickets gene locus (HPDR) was previously mapped distal to the X linked polymorphic locus DXS41 (99.6) but its position in relation to the distal loci DXS43 (D2) and DXS85 (782) was not established. In order to obtain a precise mapping of the disease locus in relation to these genetic loci, additional affected families informative for these X linked markers have been investigated. The combined results from the two studies have established linkage with the loci DXS41 (99.6) and DXS43 (D2); peak lod score for DXS41 (99.6) = 7.35, theta = 0.09, and peak lod score for DXS43 (D2) = 4.77, theta = 0.16. Multilocus linkage analysis mapped the hypophosphataemic rickets gene distal to the DXS41 (99.6) locus and proximal to the DXS43 (D2) locus, thereby revealing two bridging genetic markers for the disease.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. J Mol Biol. 1975 Nov 5;98(3):503-17 - PubMed
    1. Am J Hum Genet. 1959 Dec;11:311-32 - PubMed
    1. J Mol Biol. 1977 Jun 15;113(1):237-51 - PubMed
    1. Nucleic Acids Res. 1983 Apr 25;11(8):2303-12 - PubMed
    1. Anal Biochem. 1983 Jul 1;132(1):6-13 - PubMed

Publication types

Substances

LinkOut - more resources

-