国际口腔医学杂志

国际口腔医学杂志 ›› 2023, Vol. 50 ›› Issue (2): 217-223.doi: 10.7518/gjkq.2023038

• 综述 • 上一篇    下一篇

遗传性牙龈纤维瘤病相关致病基因研究进展

乔煜轩1(),李英1,2()   

  1. 1.山西医科大学口腔医学院·口腔医院 太原 030001
    2.山西医科大学第一医院口腔修复科 太原 030001
  • 收稿日期:2022-07-27 修回日期:2022-10-04 出版日期:2023-03-01 发布日期:2023-03-14
  • 通讯作者: 李英
  • 作者简介:乔煜轩，住院医师，硕士，Email：2356230680@qq.com

Research progress on the genes related of the hereditary gingival fibromatosis

Qiao Yuxuan1(),Li Ying1,2()   

  1. 1.Shanxi Medical University School and Hospital of Stomatology, Taiyuan 030001, China
    2.Dept. of Prosthodontics, The First Hospital of Shanxi Medical University, Taiyuan 030001, China
  • Received:2022-07-27 Revised:2022-10-04 Online:2023-03-01 Published:2023-03-14
  • Contact: Ying Li

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摘要：

遗传性牙龈纤维瘤病是一种罕见的口腔遗传疾病，其主要特征为牙龈缓慢渐进性增生，严重影响咀嚼、语音、美观及心理健康。近年来随着分子生物学发展以及测序技术不断进步，对遗传性牙龈纤维瘤病的研究广泛进入到基因层面。虽然遗传性牙龈纤维瘤病致病机制尚不完全明确，但国内外对遗传性牙龈纤维瘤病致病基因的探索已有大量成果，目前缺少相关方面的整理与回顾。本文针对国内外对遗传性牙龈纤维瘤病染色体变异区域、致病基因及候选基因研究现状及其在遗传性牙龈纤维瘤病中的作用机制进行综述。

关键词: 遗传性牙龈纤维瘤病, 染色体, 基因, 研究进展, 遗传疾病

Abstract:

Hereditary gingival fibromatosis (HGF) is a rare oral genetic disease characterized by slow progressive gingival proliferation, which seriously affects chewing, speech, aesthetics and mental health. In recent years, with the deve-lopment of molecular biology and continuous progress of sequencing technology, the study of hereditary gingival fibromatosis has entered the genetic level. At present, the pathogenic mechanism of hereditary gingival fibromatosis is notentirelyclear. Meanwhile, there are a lot of results in the exploration of the pathogenic genes of hereditary gingival fibromatosis at home and abroad, but there is a lack of collation and review of relevant aspects. This paper reviews the research status of chromosomal variation regions, pathogenic genes and candidate genes in hereditary.

Key words: hereditary gingival fibromatosis, chromosome, gene, research progress, genetic disease

中图分类号: 

  • R 34

表 1

sHGF相关致病基因*"

疾病名称遗传特性#致病基因染色体定位OMIM△编号
HTC1ARABCA517q24.2-q24.3135400
HTC2XLD—Xq27.1307150
CavipmrAREMC11p36.13616875
DRS2ADDVL11p36.33616331
Ramon综合征AR——266270
HFSARANTXR24q21.21228600
Cowden综合征ADPTEN10q23.31158350
Cross综合征AR——257800
MANSAARMAN2B119p13.13248500
CSTLOADHRAS11p15.5218040
黏脂贮积症Ⅱ型ARIDUA4p16.3607014
遗传性釉质发育不全ⅢAADFAM83H8q24.3130900
遗传性釉质发育不全ⅠBADENAM4q13.3104500
SHFM1ADDLX57q21.3183600
多诺霍综合征ARINSR19p13.2147670
CFSMRARTMCO11q24.1213980
DRS3ADDVL33q27.1601368
AGUARAGA4q34.3208400
FTHSARSH3PXD2B5q35.1249420
EDSDERMSARADAMTS25q35.3225410
纤溶酶原缺乏Ⅰ型ARPLG6q26217090
ZLS1ADKCNH11q32.2135500
ZLS2ARATP6V1B28p21.3616455
RNSARFAM20C7p22.3259775
RRS1ARROR29q22.31268310
BBDSADFGFR210q26.13614592
CANTU综合征ADABCC912p12.1239850
MONAARMMP216q12.2259600

《中国口腔医学年鉴》2021年卷出版发行"

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