国际口腔医学杂志 ›› 2021, Vol. 48 ›› Issue (5): 512-519.doi: 10.7518/gjkq.2021090

• 唇腭裂专栏 • 上一篇    下一篇

双生子模型在唇腭裂病因学研究中的应用

马晓芳1(),黄永清2,石冰3,马坚2()   

  1. 1.宁夏医科大学口腔医学院 银川 750003
    2.宁夏医科大学总医院口腔颌面外科 银川 750004
    3.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四川大学华西口腔医院唇腭裂外科 成都 610041
  • 收稿日期:2021-02-23 修回日期:2021-06-15 出版日期:2021-09-01 发布日期:2021-09-10
  • 通讯作者: 马坚
  • 作者简介:马晓芳,硕士,Email: 1725365869@qq.com
  • 基金资助:
    国家自然科学基金(81600853);宁夏回族自治区重点研究开发项目(2021BEG2043);宁夏医科大学校级科研项目(XT2015018)

Application of twin model in etiology of cleft lip with or without cleft palate

Ma Xiaofang1(),Huang Yongqing2,Shi Bing3,Ma Jian2()   

  1. 1. School of Stomatology, Ningxia Medical University, Yinchuan 750003, China
    2. Dept. of Oral and Maxillofacial Surgery, General Hospital of Ningxia Medical University, Yinchuan 750004, China
    3. State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Dept. of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China
  • Received:2021-02-23 Revised:2021-06-15 Online:2021-09-01 Published:2021-09-10
  • Contact: Jian Ma
  • Supported by:
    National Natural Science Foundation of China(81600853);Key Research and Development Project of Ningxia Hui Autonomous Region(2021BEG2043);School Level Research Project of Ningxia Medical University(XT2015018)

摘要:

唇腭裂(CL/P)是最为常见的颅颌面部先天性畸形之一。该病的病因非常复杂,它被认为主要是由遗传与环境因素共同作用导致的遗传性疾病。双生子具有相似的遗传信息且共享环境因素,因而被认为是研究遗传性疾病病因学的理想模型。本文就双生子的分类及鉴别、双生子模型的优势及用途,以及双生子模型在唇腭裂易感基因筛选中的应用进展作一综述,以期为更深入地探讨唇腭裂的病因提供新思路。

关键词: 唇腭裂, 双生子, 同卵双生子, 表观遗传学

Abstract:

Cleft lip with or without cleft palate (CL/P) is one of the most common congenital cranio/maxillofacial deformities. The cause of the disease is complicated, which is considered to be a genetic disease mainly due to genetic and environmental factors. Twins, who share similar genetic information and environmental factors, are considered ideal models for studying the aetiology of inherited diseases. By reviewing the literature, this paper reviews the classification and identification of twins, the advantages and uses of the twin model and the application and progress of the twin model in the screening of susceptibility genes of CL/P to provide a new idea for further exploration of the causes of CL/P.

Key words: cleft lip with or without cleft palate, twins, monozygotic twin, epigenetics

中图分类号: 

  • R34
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