组织工程与重建外科杂志2018，Vol.14Issue(1)：43-47,5.DOI:10.3969/j.issn.1673-0364.2018.01.012
先天性手足分裂畸形的分子遗传学及基因诊断研究进展
Molecular Genetics and Genetic Diagnosis of Split-Hand/Foot Malformation
摘要
Abstract
Split-hand/foot malformation(SHFM)is a severe congenital malformation with hand/foot crack,syndactyly and hypoplasia of phalange and metacarpal. SHFM, characterized by defect or dysplasia of central rays and fusion of other rays, occurs as an isolated trait or a part of congenital anomaly syndrome. By far, 7 chromosomal loci associated with isolated SHFM have been confirmed, i.e., SHFM1-6 and SHFM/SHFLD. SHFM1, SHFM3, SHFM4 and SHFM5 are related with chromosomal rearrangement,including genomic small-scale deletion and duplication.SHFLD mainly relates to duplication of chromosome section. SHFM2 and SHFM6 have low frequency and the mechanism is not yet clear. In this paper, the gene mutations,frequency,test method,corresponding genetic counseling and their mechanism were all reviewed.关键词
手足分裂畸形/分子遗传/基因诊断/遗传咨询Key words
Split-hand/foot malformation/Molecular genetics/Genetic diagnosis/Genetic counseling分类
医药卫生引用本文复制引用
陈政升,陈瓅,石文暘,许彦,王斌,韩刚..先天性手足分裂畸形的分子遗传学及基因诊断研究进展[J].组织工程与重建外科杂志,2018,14(1):43-47,5.基金项目
国家自然科学基金面上项目(81772115,81571930) （81772115,81571930）
上海交通大学医学院"大学生创新训练计划"项目(1117025). （1117025）
