Three DNA markers for hypophosphataemic rickets

Hum Genet. 1992 Jul;89(5):539-42. doi: 10.1007/BF00219180.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Southern
  • Chromosome Aberrations*
  • Female
  • Genetic Linkage
  • Genetic Markers*
  • Genetic Variation
  • Humans
  • Hypophosphatemia, Familial / genetics*
  • Lod Score
  • Male
  • Polymorphism, Restriction Fragment Length
  • Restriction Mapping
  • X Chromosome*

Substances

  • Genetic Markers