Three DNA markers for hypophosphataemic rickets.
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.
Department of Medicine, University College and Middlesex Medical School, Middlesex Hospital, London, UK.
P S
PS
Rowe
A P
AP
Read
R
R
Mountford
F
F
Benham
T A
TA
Kruse
G
G
Camerino
K E
KE
Davies
J L
JL
O'Riordan
D015139:Blotting, Southern; D002869:Chromosome Aberrations; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D014644:Genetic Variation; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000235:genetics*; D008126:Lod Score; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping; D014960:X Chromosome
D005819:Genetic Markers