成骨不全一家系的COL1A1基因突变分析

目的探讨一个成骨不全家系的COL1A1基因的突变位点及其与临床特征的关系。方法收集一个成骨不全家系的临床资料，采用聚合酶链反应以及直接测序法对家系内成员进行COL1A1基因突变位点检测，同时对50名无血缘关系健康对照者的该位点进行限制性内切酶分析。结果该家系中成骨不全患者均存在COL1A1基因的第2461位点G→A突变（17．821S），但其临床特征不一致。而在家系内非患者及正常对照者中均未发现该突变。结论COL1A1基因突变是中国人群中成骨不全致病原因之一。成骨不全的表型不仅与基因型有关，还与遗传背景有关。

Gene mutation analysis of a Chinese family with osteogenesis imperfecta

OBJECTIVE: To study the gene mutation of collagen, type I, alpha 1 (COL1A1) associated with the clinical characterization of a Chinese family with type I osteogenesis imperfecta (OI). METHODS: Polymerase chain reaction, DNA sequencing and restriction endonuclaese analysis were used to check all the members in the family with OI and 50 normal control people for detecting the mutation of COL1A1 gene. RESULTS: A 2461G>A (G821S) mutation was found and identified in COL1A1 gene of OI patients, to whom the individual clinical characterization was displayed, however. And the other members in the family with OI and the control did not have such gene mutation as 2461G>A. CONCLUSION: The mutation of COL1A1 gene is one of the OI etiologic causes in China. There is no simple universal linkage between such gene changes and OI phenotype, but which not only involved in the OI genotype but the genetic background as well.