颅颌面口腔综合征的遗传学思考

doi:10.3969/j.issn.1005-4979.2020.03.001

《口腔颌面外科杂志》 ›› 2020, Vol. 30 ›› Issue (3): 125-131. doi: 10.3969/j.issn.1005-4979.2020.03.001

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颅颌面口腔综合征的遗传学思考

段小红()

军事口腔医学国家重点实验室，口腔疾病国家临床医学研究中心，陕西省口腔医学重点实验室，第四军医大学口腔医学院口腔罕见病与遗传病门诊，口腔生物学教研室，陕西西安 710032

收稿日期:2020-03-25 修回日期:2020-04-15 出版日期:2020-06-28 发布日期:2020-06-26
通讯作者: 段小红，教授. E-mail: x-duan@foxmail.com

作者简介:

段小红（1968—），女，博士，江苏淮安人，教授，段小红教授为空军军医大学第三附属医院（原第四军医大学口腔医学院）口腔生物学教研室主任，口腔罕见病与遗传门诊、实验仪器中心首任主任。担任中华口腔医学会口腔遗传病与罕见病专业委员会首任主任委员、口腔生物医学专业委员会常务委员、陕西省医学遗传学学会委员。1986-09—1991-07就读于西安交通大学口腔医学院（原西安医科大学口腔医学院），获口腔医学学士学位；1994-09—1997-08和1997-09—2000-07就读于第四军医大学口腔医学院，分别获硕士和博士学位。西安交通大学（2001-03—2003-03）和美国Johns Hopkins大学（2004-08—2007-03）博士后，美国国家基因研究所访问学者（2013-09—2013-10，2011-11—2012-03）。牵头创建了中华口腔医学会口腔遗传病与罕见病专业委员会、国内首个口腔遗传病与罕见病门诊、生物样本库和中英文咨询网，擅长诊治口腔颌面及骨骼等的多种遗传性疾病与罕见病。先后主持了13项国家级及省部级课题，发表了110余篇中英文学术文章。主编国内首部《口腔遗传病学》和口腔医学慕课规划课程《口腔遗传病学》，参编其他教材11部。作为第一完成人获得陕西省教学成果奖一等奖1项和陕西省精品在线开放课程1项。

基金资助:
国家自然科学基金项目(81974145); 国家自然科学基金项目(81771052)

Genetic View of Craniofacial and Oral Syndromes

DUAN Xiaohong()

State Key Laboratory of Military Stomatology & National Clinical Research Center for Oral Diseases & Shaanxi Key Laboratory of Stomatology, Department of Oral Biology, Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, the Fourth Military Medical University, Xi′an 710032, Shaanxi Province, China

Received:2020-03-25 Revised:2020-04-15 Online:2020-06-28 Published:2020-06-26

摘要/Abstract

摘要：

综合征表现为多器官、组织的结构异常或功能障碍，具有患病率低、临床特征复杂多样、病情较重的特征。很多综合征伴随口腔颅颌面异常，是口腔颌面外科的诊治难点。通常遗传因素是导致各类综合征发生的主要因素。本文从遗传学的角度探讨口腔颌面外科相关综合征的发生、诊断、治疗与遗传的关系，分析未来遗传相关因素可能对口腔颅颌面综合征诊治的影响。

关键词: 综合征, 遗传学, 遗传咨询, 口腔颌面外科

Abstract:

Clinical syndromes are characterized by structural abnormalities or dysfunction of multiple organs or tissues, low prevalence, complex clinical features and severe symptoms. Many syndromes consist of craniofacial and oral malformations, which are difficult to diagnose and treat in oral and maxillofacial surgery field. Genetic factors are usually the main causes of various syndromes. From the perspective of genetics, this paper discusses the relationship between genetic factors and the development, diagnosis and treatment of various syndromes, and analyze the possible genetic effects on the future characteristics of craniofacial and oral syndromes.

Key words: syndrome, genetics, genetic counseling, oral and maxillofacial surgery

中图分类号:

R782

段小红. 颅颌面口腔综合征的遗传学思考[J]. 《口腔颌面外科杂志》, 2020, 30(3): 125-131.

DUAN Xiaohong. Genetic View of Craniofacial and Oral Syndromes[J]. 《Journal of Oral and Maxillofacial Surgery》, 2020, 30(3): 125-131.

https://journal06.magtech.org.cn/Jweb_joms/CN/Y2020/V30/I3/125

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