口腔遗传病与罕见病生物样本库建设及相关样本保存编码专家共识  

Expert consensus on the biobank development of oral genetic diseases and rare diseases and storage codes of related biological samples from craniofacial and oral region

作　　者：阮文彦 张燕丽 郑树国[2] 孙瑶[3] 范志朋[4] 宋亚玲[5] 孙宏晨[6] 王文梅[7] 代杰文[8] 赵震锦[9] 张婷婷[10] 陈栋 潘永初[12] 蒋月桂[13] 王旭东[8] 郑黎薇[14] 朱庆林 何淼[16] 许宝山 贾仲林[18] 韩冬[19] 段小红 Ruan Wenyan;Zhang Yanli;Zheng Shuguo;Sun Yao;Fan Zhipeng;Song Yaling;Sun Hongchen;Wang Wenmei;Dai Jiewen;Zhao Zhenjin;Zhang Tingting;Chen Dong;Pan Yongchu;Jiang Yuegui;Wang Xudong;Zheng Liwei;Zhu Qinglin;He Miao;Xu Baoshan;Jia Zhonglin;Han Dong;Duan Xiaohong(Clinic of Oral Rare Diseases and Genetic Diseases&Department of Oral Biology,School of Stomatology,The Fourth Military Medical University,State Key Laboratory of Oral&Maxillofacial Reconstruction and Regeneration,National Clinical Research Center for Oral Diseases,Shaanxi Key Laboratory of Stomatology,Xi′an 710032,China;Department of Preventive Dentistry,Peking University School and Hospital of Stomatology&National Center for Stomatology&National Clinical Research Center for Oral Diseases&National Engineering Research Center of Oral Biomaterials and Digital Medical Devices&Beijing Key Laboratory of Digital Stomatology,Beijing 100081,China;Department of Oral Implantology,Stomatological Hospital and Dental School of Tongji University,Shanghai Engineering Research Center of Tooth Restoration and Regeneration,Shanghai 200072,China;Capital Medical University School of Stomatology&Beijing Key Laboratory of Tooth Regeneration and Function Reconstruction,Beijing 100050,China;State Key Laboratory of Oral&Maxillofacial Reconstruction and Regeneration,Key Laboratory of Oral Biomedicine Ministry of Education,Hubei Key Laboratory of Stomatology,School&Hospital of Stomatology,Wuhan University,Wuhan 430079,China;Department of Oral Pathology,Hospital of Stomatology,Jilin University,Changchun 130021,China;Department of Oral Mucosal Diseases,Nanjing Stomatological Hospital,Medical School of Nanjing University,Nanjing 210008,China;Department of Oral and Craniomaxillofacial Surgery,Shanghai Ninth People′s Hospital,Shanghai Jiao Tong University School of Medicine&College of Stomatology,Shanghai Jiao Tong University&National Center for Stomatology&National Clinical Research Center for Oral Diseases&Shanghai Key Laboratory of Stomatology&Shanghai Research Institute of Stomatolo

机构地区：[1]第四军医大学口腔医院口腔罕见病与遗传病门诊/口腔生物学教研室、口颌系统重建与再生全国重点实验室、国家口腔疾病临床医学研究中心、陕西省口腔医学重点实验室,西安710032 [2]北京大学口腔医学院·口腔医院预防科、国家口腔医学中心、国家口腔疾病临床医学研究中心、口腔生物材料和数字诊疗装备国家工程研究中心、口腔数字医学北京市重点实验室,北京100081 [3]同济大学口腔医学院·附属口腔医院口腔种植科、上海牙组织修复与再生工程技术研究中心,上海200072 [4]首都医科大学口腔医学院、全牙再生与口腔组织功能重建北京市重点实验室,北京100050 [5]武汉大学口腔医(学)院、口颌系统重建与再生全国重点实验室、口腔生物医学教育部重点实验室、口腔医学湖北省重点实验室,武汉430079 [6]吉林大学口腔医院口腔病理学教研室,长春130021 [7]南京大学医学院附属口腔医院·南京市口腔医院口腔黏膜病科,南京210008 [8]上海交通大学医学院附属第九人民医院口腔颅颌面科、上海交通大学口腔医学院、国家口腔医学中心、国家口腔疾病临床医学研究中心、上海市口腔医学重点实验室上海市口腔医学研究所,上海200011 [9]中国医科大学口腔医学院·附属口腔医院第一门诊、辽宁省口腔疾病重点实验室,沈阳110002 [10]天津医科大学口腔医院口腔颌面外科,天津300070 [11]郑州大学第一附属医院口腔综合科,郑州450052 [12]南京医科大学附属口腔医院口腔正畸科、江苏省口腔疾病研究重点实验室、江苏省口腔转化医学工程研究中心,南京210029 [13]西安交通大学口腔医院牙体牙髓病科,西安710004 [14]四川大学华西口腔医院儿童口腔科、口腔疾病研究国家重点实验室、国家口腔疾病临床医学研究中心,成都610041 [15]第四军医大学口腔医院牙体牙髓病科、口颌系统重�

出　　处：《中华口腔医学杂志》2023年第8期749-758,共10页Chinese Journal of Stomatology

基　　金：国家自然科学基金(81974145);陕西省重点研发计划(2021ZDLSF02-13);国家口腔疾病临床医学研究中心专项课题(LCC202201,LCA202013)。

摘　　要：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。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.

关 键 词：口腔医学 生物样本库 罕见病 遗传病 标准化 信息化 专家共识 

分 类 号：R78[医药卫生—口腔医学]