The biological samples of oral genetic diseases and rare diseases are extremely precious. Collecting and preserving these biological samples are helpful to elucidate the mechanisms and improve the level of diagnose and treatment of oral genetic diseases and rare diseases. The standardized construction of biobanks for oral genetic diseases and rare diseases is important for achieving these goals. At present, there is very little information on the construction of these biobanks, and the standards or suggestions for the classification and coding of biological samples from oral and maxillofacial sources, and this is not conducive to the standardization and information construction of biobanks for special oral diseases. This consensus summarizes the background, necessity, principles, and key points of constructing the biobank for oral genetic diseases and rare diseases. On the base of the group standard "Classification and Coding for Human Biomaterial" (GB/T 39768-2021) issued by the National Technical Committee for Standardization of Biological Samples, we suggest 76 new coding numbers for different of biological samples from oral and maxillofacial sources. We hope the consensus may promote the standardization, and smartization on the biobank construction as well as the overall research level of oral genetic diseases and rare diseases in China.
口腔遗传病与罕见病生物样本极其珍贵，收集保存此类样本有助于阐明此类疾病的发病机制以及提高诊治水平，而针对此类疾病生物样本库的标准化建设是实现这些目的的重要基石。目前有关口腔遗传病与罕见病生物样本库建设的文献信息非常少，也缺乏口腔颌面部来源生物样本分类及其编码的标准或建议，不利于口腔专病生物样本库的标准化和信息化建设。本文总结了口腔遗传病与罕见病生物样本库建设的背景、必要性、原则和要点。在全国生物样本标准化技术委员会出台的团体标准《人类生物样本分类与编码》基础上，新增76种口腔颌面部来源生物样本的编码建议，以期实现口腔颌面部来源生物样本分类与编码的标准化，推动口腔专病特别是口腔遗传病与罕见病生物样本库的智慧化建设，提升我国口腔遗传病与罕见病的整体研究水平。.