Identification and molecular characterization of two novel mutations of exon 49 in COL1A2 gene in two Chinese families with Osteogenesis Imperfecta

作     者：Zhenping Xu~(1,2),Yulei Li~2,Yong Gao~1,Xiangyang Zhang~1, Mugen Liu~1,Qing K Wang~(1,3),Jing Yu Liu~(1*) 1 Key Laboratory of Molecular Biophysics of the Ministry of Education,Center for Human Genome Research,College of Life Science and Technology,Huazhong University of Science and Technology, Wuhan,430074,China 2 Key Open Laboratory for Tissue Regeneration of Henan Universities,Department of Life Science and Technique,Xinxiang Medical University,Xinxiang,453003,China 3 Department of Molecular Cardiology,Lerner Research Institute,The Cleveland Clinic Foundation, Case Western Reserve University,44195,Cleveland,Ohio,USA 

会议名称：《湖北省遗传学会第八次代表大会暨学术讨论会》

会议日期：2009年

学科分类：1002[医学-临床医学] 100210[医学-外科学(含：普外、骨外、泌尿外、胸心外、神外、整形、烧伤、野战外)] 10[医学] 

摘      要：Osteogenesis imperfecta,or brittle bone disease,are caused by mutations in typeⅠcollagen genes COL1A1 and COL1A2,encoding the proal(I) and proa2(I) chains of typeⅠcollagen,*** three-generation chinesse families with OI typeⅢand autosomal dominant were identified and *** analysis revealed linkage of the familes to the COL1A2 gene on chromosome *** analysis of all exons and exon-intron boundaries of COL1A2 was carried out using direct DNA sequence *** this study,two novel missense mutations c.3305GC,p.G1102A and c.3350 AG,p.Y1117C in exon 49 of affected family 1 and family 2 members were identified, *** mutations were found in unaffected family menbers and 200 nomal controls.G1102 and Y1117 residues are evolutionarily highly conserved from Danio,Gallus,and Mus to *** results strongly suggest that mutations are pathogenic causes for osteogenesis imperfecta in two Chinese familes.