Three DNA markers for hypophosphataemic rickets

✍ Scribed by Peter S. N. Rowe; Andrew P. Read; Roger Mountford; Frances Benham; Torben A. Kruse; Giovanna Camerino; Kay E. Davies; Jeffrey L. H. O'Riordan

• Publisher: Springer
• Year: 1992
• Tongue: English
• Weight: 334 KB
• Volume: 89
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00219180

✦ Synopsis

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 (theta max = 0.00, Zmax = 4.20), and DXS41 (99.6), (theta max = 0.00, Zmax = 5.20). Marker 16D/E maps distal to the disease locus (theta 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.