指(趾)骨异常及其相关基因研究进展

Finger(toe) Abnormality and the Latest Relative Genetic Research

指(趾)骨异常是人群中较为常见的一种遗传缺陷,一般为常染色体显性遗传,也有少数以常染色体隐性遗传的方式传递,包括四肢大范围的缺失缺陷,也包括细微的指(趾)数目、长度、解剖形态结构的变化,是由于遗传进化过程中的变异或发育过程中的不良因素(如异常子宫内环境)所致。指(趾)骨异常可以分为多指(趾)并指(趾)症(Synpolydactyly,SPD)、手足裂畸形(split-hand/split-foot malformation,SHFM)和短指(趾)(Brachydactyly,BD)。本文综述了指(趾)骨异常的分类及其遗传特点,总结了指(趾)骨异常畸形相关基因的研究进展。

Finger （toe） abnormality is common in genetic defect, which includes large-area defect of four limbs, subtle change of the number, length and structure of anatomic form of finger （toe）, These are led by heteromorphosis in the process of inheritance and unhealthy factors （such as environment in uterus）. Most of the time, it＇s mode of inheritance is autosomal dominant inheritance,Sometimes, also autosomal recessive inheritance. Finger （toe） abnormality includes Synpolydaetyly （SPD）,split-hand/split-foot malformation （SHFM） and Brachydactyly （BD）. This essay summarize the category of finger （toe） abnormality, its feature of inheritance and the latest genetic research on finger （toe） abnormality.