The elucidation of the genetic background of osteogenesis imperfecta : Deployment to the custom-made medical treatment by a genotype.

对22例OI患者的COL1A1和COL1A2基因进行测序分析，发现14个突变。14个突变中的每一个都只在一个家庭中发现。COL1A1和COL1A2突变等位基因是异质的。甘氨酸到丝氨酸的取代倾向于导致更严重的表型。多数患者巩膜变蓝，牙本质生成不全。双磷酸盐显著增加所有患者的BMD，但未发现突变基因或突变类型与BMD增加之间存在相关性。

Sequencing analysis of COL1A1 and COL1A2 in 22 OI patients revealed 14 mutations. Each of the 14 mutations was found only in a single family. COL1A1 and COL1A2 mutant alleles are heterogeneous. Glycine to serine substitutions tend to lead to a more severe phenotype. Most of the patients had blue sclerae and dentinogenesis imperfecta. Bisphosphpnate significantly increased BMD in all the patients, though no correlation was found between the mutated gene or mutation type and increment in BMD.