Gene: [06p213/PDB1] Paget disease of bone 1; [PDB ]
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CAG |
Because of some clinical similarities of Paget disease of bone (PDB) to familial expansile osteolysis (GEM:18q213/FEO), which had been mapped to Chr 18q21-22, Van Hul-1997 performed linkage analysis in 8 large 'pagetic' families from varied ethnic backgrounds using a panel of polymorphic microsatellite markers spanning the region of interest on 18q. Summated 2-point lod scores were suggestive for linkage with several markers with a maximum of 3.48 for D18S60 at theta = 0.0. HOMOG analysis of the multipoint lod scores obtained for the 8 families suggested genetic heterogeneity, with 4 families indicating a high probability of linkage to 18q21-q22 (GEM:18q2/PDB2, Paget disease of bone 2), while one family was clearly excluded, and the results on the 3 remaining families were inconclusive." |
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REF |
LIN "Fotino M &: Transplant Proc, 9, 1867-1868, 1977 LIN,LOC,HET "Van Hul W &: AJHG, 61, A298, 1997 |
|
KEY |
bone |
|
CLA |
unknown, basic |
|
LOC |
06 p21.3? |
|
MIM |
MIM: 167250 |
|
SYN |
PDB |
