天津医药

天津医药 ›› 2015, Vol. 43 ›› Issue (6): 702-704.doi: 10.11958/j.issn.0253-9896.2015.06.033

• 综述 • 上一篇    

Hox基因在马蹄内翻足病因中的研究进展

刘凤松， 胡钦亮， 杜世新   

  1. 天津医科大学第二医院骨科

  • 收稿日期:2014-10-17 修回日期:2014-12-05 出版日期:2015-06-15 发布日期:2015-06-10
  • 通讯作者: 胡钦亮 E-mail:huqinliang@126.com

Current research of role of Hox genes in pathogenesis of equinus deformity

LIU Fengsong, HU Qinliang, DU Shixin   

  1. Department of Orthopaedics, Second Hospital of Tianjin Medical University

  • Received:2014-10-17 Revised:2014-12-05 Published:2015-06-15 Online:2015-06-10

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摘要： 先天性马蹄内翻足 （CCF） 是危害儿童健康的常见先天畸形， 病因不明， 现阶段认为是多基因遗传因素与环境因素共同作用的结果。关于遗传因素在 CCF 病因中的研究众多， 结合目前研究成果， 多个基因可能在 CCF 发病中起重要作用， 如同源异型盒基因(Hox）、 PITX1、 NAT2、 P63、 DTDS、 COL9A 等， 这为探讨 CCF 的预防和治疗提供了更多设想， 但是还未确定哪个基因在发病因素中起决定性作用。近年来有研究报道显示 CCF 发病与 Hox 基因的表达密切相关。Hox 是一类专门调控生物形体的基因， 一但它发生突变， 就会导致身体的一部分变形， 在人体中表现为肢体的先天畸形。本文就 Hox 在 CCF 致病相关基因的研究进展作一综述， 为其临床治疗提供基础。

关键词: 基因, 同源盒, 马蹄足畸形, 遗传学, 医学, 综述, HOTAIR

Abstract: Congenital clubfoot（CCF） , which is also known as equines deformity, is a common congenital malformation that affect children′s life quality. However, its cause is still to be elucidated. Currently, polygenetic and environmental factors are both believed to play important roles in CCF pathogenesis. Several genes including HOX, PITX1, NAT2, P63, DTDS and COL9A were shown to contribute to congenital clubfoot, but which is the most critical gene remains unclear. Several reports have revealed that Hox genes are closely related to the cause of CCF. Hox genes are regulators of body morphogenesis,and its mutation result in limbs and trunk deformity in human. Here, we systematically reviewed the latest literature that studied the role of Hox genes in pathogenesis of Congenital clubfoot, with the prospect of laying a foundation for its future clinic treatment.

Key words: genes, homeobox, equinus deformity, genetics, medical, review, HOTAIR