TY - JOUR
T1 - Autosomal Dominant Spondyloarthropathy
T2 - No Linkage to the Type II Collagen Gene
AU - Superti-Furga, A.
AU - Steinmann, B.
AU - Lee, B.
AU - Ramirez, F.
AU - Lehner, T.
AU - Ott, J.
AU - Gaucher, A.
AU - Moreau, P.
AU - Weryha, G.
PY - 1990/2/22
Y1 - 1990/2/22
N2 - To the Editor: We have described a large family in which adult-onset seronegative spondylarthropathy was inherited as an autosomal dominant trait (April 6 issue).1 The disease did not segregate with the HLA locus, and the HLA-B27 antigen, a known genetic factor predisposing patients to spondyloarthropathies,2 was not found in any affected family member. Because of recent evidence of genetic linkage between familial osteoarthrosis and the gene of cartilage-specific Type II collagen (COL2A1),3,4 we examined whether markers at the COL2A1 locus segregate with the clinical phenotype in this family. Twenty-six affected and unaffected family members underwent genotyping with the use of.
AB - To the Editor: We have described a large family in which adult-onset seronegative spondylarthropathy was inherited as an autosomal dominant trait (April 6 issue).1 The disease did not segregate with the HLA locus, and the HLA-B27 antigen, a known genetic factor predisposing patients to spondyloarthropathies,2 was not found in any affected family member. Because of recent evidence of genetic linkage between familial osteoarthrosis and the gene of cartilage-specific Type II collagen (COL2A1),3,4 we examined whether markers at the COL2A1 locus segregate with the clinical phenotype in this family. Twenty-six affected and unaffected family members underwent genotyping with the use of.
UR - http://www.scopus.com/inward/record.url?scp=0025014966&partnerID=8YFLogxK
U2 - 10.1056/NEJM199002223220813
DO - 10.1056/NEJM199002223220813
M3 - Letter
C2 - 2300126
AN - SCOPUS:0025014966
SN - 0028-4793
VL - 322
SP - 552
EP - 553
JO - New England Journal of Medicine
JF - New England Journal of Medicine
IS - 8
ER -