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. 1987 Dec;24(12):756–760. 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 1, K E Davies 1, M P Whyte 1, R Weksberg 1, F Glorieux 1, M Davies 1, R C Mountford 1, R Harris 1, A King 1, et al.
PMCID: PMC1050404  PMID: 2828625

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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