手足裂畸形致病基因定位的研究进展  

The research progress of split-hand/split-foot malformation of pathogenic gene location

作　　者：陈韵颖[1] 唐少华 

机构地区：[1]温州医科大学检验医学院与生命科学学院,温州325000 [2]温州市中心医院中心实验室,325000

出　　处：《中国优生与遗传杂志》2014年第7期153-155,43,共4页Chinese Journal of Birth Health & Heredity

基　　金：温州市科技局重大科研资助项目(S20070027)

摘　　要：手足裂畸形是一种严重的出生缺陷,由于四肢端骨正中轴发育不全,剩余指(趾)呈现不同形式的融合,表现为手足中央裂隙、并指(趾)、指(趾)骨及掌(跖)骨发育不全的先天性肢端畸形。目前已定位了6个遗传位点,对其致病基因的研究已取得一定的进展。本文从致病基因定位的角度对各个亚型进行综述。Split-hand/split-foot malformation is a serious birth defects, as side limbs bone axial hypoplasia, remaining refers to （foot） present different forms of integration, performance for central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals.As a kind of congenital limbs deformity.Located has six genetic loci, the study of the pathogenic genes have made some progress.In this paper, from the Angle of pathogenic gene location various subtypes were summarized.

关 键 词：手足裂畸形 发病机理 遗传位点 

分 类 号：R726.8[医药卫生—儿科]