Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. Am J Med Genet A 2014;164A:1482-9.Stephen J, Shukla A, Dalal A, Girisha KM, Shah H, Gupta N, Kabra M, Dabadghao P, Hasegawa K, Tanaka H, Phadke SR (2014) Mu- tation spectrum of COL...
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfectadoi:10.1002/ajmg.a.37272ShubhaDepartmentR.DepartmentPhadkeDepartmentWileyAmerican Journal of Medical Genetics Part AStephen J, Shukla A, Dalal A, Girisha KM, Shah H, Gupta N, Kabra M, Dabadghao P, ...
We performed mutational analysis of peripheral blood gDNA of 30 unrelated Estonian OI patients using Sanger sequencing ofCOL1A1andCOL1A2genes, including all intron-exon junctions and 5′UTR and 3′UTR regions, to identify causative OI mutations. We identifiedCOL1A1/2mutations in 86.67% of ...
Bioinformatics analysis of COL1A1 and COL1A2 genes and their expression profiles in different tissues of sika deer 在线阅读 下载PDF 引用 收藏 分享 摘要 【目的】探明COL1A1(Collagen type I alpha 1 chain,I型胶原蛋白α1链)和COL1A2(Collagen type I alpha 2 chain,I型胶原蛋白α2链)基因在...
Although >90% of patients with osteogenesis imperfecta (OI) have been estimated to have mutations in the COL1A1 and COL1A2 genes for type I procollagen, mutations have been difficult to detect in all patients with the mildest forms of the disease (i.e., type I). In this study, we ...
(Method) The expression levels of COL1A1 and COL1A2 genes in heart, liver, spleen, lung, kidney, large intestine, small intestine, cecum, duodenum, rumen, reticulum, omasum, abomasum, longissimus dorsi, leg muscle and testis of male sika deer were detected by RT-qPCR. The biological ...
目的 分析4个成骨不全家系致病基因COL1A1,COL1A2基因致病突变位点,为家系遗传咨询和产前诊断提供依据.方法 应用二代测序对4个成骨不全家系的先证者COL1A1,COL1A2基因... 白莹,孔祥东,刘宁,... - 《中华医学遗传学杂志》 被引量: 2发表: 2017年 Mutations in the COL1A1 and COL1A2 genes associated ...
Genetic analysis of COL1A1 and COL1A2 genes in two fetuses with osteogenesis imperfecta phenotype 引用 收藏 分享 摘要 目的探讨2例成骨不全症(OI)胎儿的临床表型及遗传学特征,明确致病原因。方法收集分别在2021年6月11日和2021年10月16日就诊于潍坊医学院附属医院的2例中孕期超声诊断疑似OI胎儿的临床资料...
检测人COL1A1和/或COL1A2基因DNA突变的试剂盒,包括用于检测COL1A1与COL1A2基因第1至第52外显子突变的测序引物组。采用特异性引物组,针对COL1A1和COL1A2基因的第1～52外显子进行突变检测,确保了测定结果的准确性与特异性,针对COL1A1与COL1A2基因突变所导致的成骨不全I‑IV型、爱莱尔‑当洛综合征、卡菲...
Most forms of osteogenesis imperfecta are caused by dominant mutations in either of the two genes, COL1A1 and COL1A2, that encode the pro alpha 1(I) and pro alpha 2(I) chains of type I collagen, respectively. However, a severe, autosomal recessive form of OI type III with a comparativ...