Three DNA markers for hypophosphataemic rickets |
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| Authors: | Peter S N Rowe Andrew P Read Roger Mountford Frances Benham Torben A Kruse Giovanna Camerino Kay E Davies Jeffrey L H O'Riordan |
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| Institution: | (1) Department of Medicine, University College and Middlesex Medical School, Middlesex Hospital, Mortimer Street, W1N 8AA London, UK;(2) Department of Medical Genetics, University of Manchester, M13 OJH Manchester, UK;(3) Galton Laboratories, Wolfson Laboratory of Molecular Genetics, University College London, NW1 2HE London, UK;(4) Institute of Human Genetics, University of Aarhus, Aarhus, Denmark;(5) Department of Genetics and Microbiology, Pavia University, Pavia, Italy;(6) Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DU Headington, Oxford, UK |
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| Abstract: | Summary This paper presents three markers, 16D/E, pHMAI (DXS208), and CRI-L1391 (DXS274), that show close linkage for X-linked hypophosphataemic rickets (HYP). DXS274 is closely linked to HYP (
max= 0.00, Zmax = 4.20), and DXS41 (99.6), (
max= 0.00, Zmax = 5.20). Marker 16D/E maps distal to the disease locus (
max= 0.05, Zmax = 3.11). The pHMAI probe recognises the same restriction fragment length polymorphism (RFLP) as 99.6. Multipoint analysis suggests that the most probable order of loci is Xpter-(DXS43, 16D/E)-HYP-DXS274-(DXS208, DXS41)-Xcen. The location of DXS274 distal to HYP cannot be excluded, as no recombinants were observed between DXS274 and HYP, or between DXS274 and DXS41/DXS208. One of the families contains a large number of recombinants, four of which are double recombinants. This most probably means that the disease in this family maps elsewhere on the X chromosome or on an autosome, indicating locus heterogeneity. |
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