短指/趾的分子遗传学研究进展

doi:10.3724/SP.J.1005.2012.01522

遗传 ›› 2012, Vol. 34 ›› Issue (12): 1522-1528.doi: 10.3724/SP.J.1005.2012.01522

短指/趾的分子遗传学研究进展

虢毅^1,2, 梁卉¹, 邓昊¹

1. 中南大学湘雅三医院医学实验中心, 长沙 410013 2. 中南大学湘雅医学院医药信息系, 长沙410013

收稿日期:2012-04-18 修回日期:2012-05-15 出版日期:2012-12-20 发布日期:2012-12-25
通讯作者: 邓昊 E-mail:denghao0008@hotmail.com
基金资助:
国家自然科学基金项目(编号：81101339), 中南大学“升华学者计划”特聘教授岗位(邓昊)项目, 教育部高等学校博士学科点专项科研基金课题(编号：20110162110026), 中央高校科学研究发展基金项目(编号：2011JQ014)和湘雅三医院重点培育学科专项基金(临床检验诊断学)资助

Advances in the molecular genetics of brachydactyly

GUO Yi^1,2, LIANG Hui¹, DENG Hao¹

1. Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha 410013, China 2. Department of Medical Information, Xiangya Medical School, Central South University, Changsha 410013, China

Received:2012-04-18 Revised:2012-05-15 Online:2012-12-20 Published:2012-12-25

摘要/Abstract

摘要： 短指/趾(Brachydactyly, BD)是指(趾)骨和/或掌(跖)骨短小、缺失或融合导致的手/足先天畸形, 是一组以骨发育障碍为特征的肢体畸形疾病。BD可单独出现, 也可作为综合征的一种体征, 还可伴随其他的手/足畸形如并指/趾、多指/趾、短缺畸形和指/趾骨关节融合出现。绝大多数单纯型BD呈常染色体显性遗传, 存在表现度不同和外显不全。大多数单纯型BD和一些综合征型BD的致病基因缺陷已经被鉴定。BMP (Bone morphogenetic protein)通路参与正常指/趾发育, 且已知的BD致病基因直接或间接参与该通路。文章综述了BD分子遗传学研究方面的新进展, 将有助于BD致病机制的研究和基因诊疗的开展。

关键词: 短指/趾, 骨发育不良, 分子遗传学

Abstract: Brachydactyly (BD) is a general term that refers to shortening of the hands/feet due to small or missing metacarpals/metatarsalsand/or phalanges, and forms part of the group of limb malformations characterized by bone dy-sostosis. It may occur either as an isolated trait or as part of a syndrome. BD may also be accompanied by other hand mal-formations, such as syndactyly, polydactyly, reduction defects, and symphalangism. In isolated brachydactyly, the inheri-tance is mostly autosomal dominant with variable expressivity and penetrtance. For the majority of isolated BD and some syndromic forms of BD, the causative gene defect has been identified. These studies have shown that the bone morphoge-netic protein (BMP) pathway plays a pivotal role in the normal development of digits and joints and that the majority of brachydactyly disease genes are directly or indirectly linked to this pathway. This review summarizes the progress in the molecular genetics of BD, which will contribute to the BD pathogenic mechanism and implementation of genetic clinic.

Key words: brachydactyly, bone dysostosis, molecular genetics

虢毅，梁卉，邓昊. 短指/趾的分子遗传学研究进展[J]. 遗传, 2012, 34(12): 1522-1528.

GUO Yi LIANG Hui DENG Hao. Advances in the molecular genetics of brachydactyly[J]. HEREDITAS, 2012, 34(12): 1522-1528.

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短指/趾的分子遗传学研究进展

Advances in the molecular genetics of brachydactyly

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