中文摘要：

目的：建立口腔罕见病与遗传病生物样本库,实现样本信息系统化管理。方法：以第四军医大学口腔医院为依托,与符合或疑似口腔罕见病与遗传病病症的患者或家属签订知情同意书,采用相关技术提取各类样本,完善样本的临床、遗传及分子生物学信息,录入生物样本库管理系统,通过系统产生的二维条码实施样本入库。定期对样本进行质量控制。结果：自2010年起筹建口腔罕见病与遗传病生物样本库,于2011年开始录入样本,目前已经实现了对7 000余份口腔罕见病与遗传病样本的系统信息化管理,这些样本包括血液、组织、细胞、DNA、RNA、蛋白、引物等多种类型;在样本库建立和维护的过程中,从样本入库、保存、出库等多个环节实现了对样本的质量控制,同时还制定了近10种规章制度完善生物样本库的建设。结论：口腔罕见病与遗传病生物样本库的建立使疾病样本的储存系统化和规范化,为保留珍贵的疾病样本资源提供了保证,也为科研课题的实施和科研单位之间的合作提供了便利。

英文摘要：

Objective： To establish a biobank of oral rare diseases and genetic disorders with a computer-aided management system. Methods： The biobank is based on the Fourth Military Medical University. Patients or families matching the diagnostic standard of oral rare diseases and genetic disease sign the informed consent, and the samples are extracted, labeled by two dimensional barcodes and stored. Results： The preparing work of biobank began in 2010 and formally started in 2011. At present, more than 7000 samples of o- ral rare diseases and genetic disorders were collected in the system. The samples included blood, tissues, cells, DNA, RNA, protein and primers etc. The quality of the biobank is controlled during the entire process from the storage, maintain and use. We also set up about ten kinds of rules and regulations to manage the biological sample library. Conclusion： The biobank of oral rare diseases and ge- netic disorders realizes the computer- aided management of rare clinical samples, provides a guarantee for retaining the samples, also for the implementation of the scientific research and the collaborations among different groups.