Genetic analysis and serum level of cartilage oligomeric matrix protein in patients with pseudoachondroplasia

• Published in: Chinese medical journal Vol. 123; no. 16; pp. 2181 - 2184
• Main Authors: Liu, Feng-xia, Li, Zhi-ling, Wei, Zhen-ji, Meng, Yan, Ren, Cui-ai, Zhang, Xu-de, Yu, Meng-xue, Huang, Shang-zhi
• Format: Journal Article
• Language: English
• Published: China Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, WHO Collaborating Centre for Community Control of Hereditary Diseases, Beijing 100730, China 01.08.2010; Department of Rheumatology Weifang People's Hospital, Weifang, Shandong 261042,China%Department of Rehabilitation Therapy Weifang People's Hospital, Weifang, Shandong 261042,China%Department of Rehabilitation Therapy, Tai'an Central Hospital,Tai'an, Shandong 271000, China%Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, WHO Collaborating Centre for Community Control of Hereditary Diseases, Beijing 100730, China%Department of Hematology Weifang People's Hospital, Weifang, Shandong 261042,China%Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100730, China
• Subjects: Cartilage Oligomeric Matrix Protein; Child, Preschool; ELISA试剂盒; Enzyme-Linked Immunosorbent Assay; Exons - genetics; Extracellular Matrix Proteins - blood; Extracellular Matrix Proteins - genetics; Female; Glycoproteins - blood; Glycoproteins - genetics; Humans; Male; Matrilin Proteins; Mutation; Osteochondrodysplasias - blood; Osteochondrodysplasias - genetics; Pedigree; Polymerase Chain Reaction; 基因组DNA提取; 基质蛋白; 外周血白细胞; 血清浓度; 遗传分析; mutation screening; pseudoachondroplasia; serum; cartilage oligomeric matrix protein

Background Pseudoachondroplasia （PSACH） is an autosomal-dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein （COMP）.Clinical diagnosis of PSACH is based primarily on family history, physical examination, and radiographic evaluation.There is evidenc...