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 (θ max= 0.00, Zmax = 4.20), and DXS41 (99.6), (θ max= 0.00, Zmax = 5.20). Marker 16D/E maps distal to the disease locus (θ 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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Rowe, P.S.N., Read, A.P., Mountford, R. et al. Three DNA markers for hypophosphataemic rickets. Hum Genet 89, 539–542 (1992). https://doi.org/10.1007/BF00219180
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DOI: https://doi.org/10.1007/BF00219180