多发性骨性连接综合征大家系的临床观察及遗传学研究  

Clinical and genetic study of a large pedigree of multiple synostoses syndrome

作　　者：徐汪洋 丁晓毅[2] 徐建强[3] 张海国 杨江民[4] 袁文涛 黄薇 王铸钢 吴晓林 顾鸣敏 

机构地区：[1]上海交通大学医学院基础医学院医学遗传学教研室,上海200025 [2]上海交通大学医学院瑞金医院放射科,上海200025 [3]上海交通大学医学院瑞金医院骨科,上海200025 [4]青海省中医院检验科,青海西宁810000 [5]上海人类基因组南方研究中心,上海201203

出　　处：《诊断学理论与实践》2011年第2期117-121,共5页Journal of Diagnostics Concepts & Practice

基　　金：国家自然科学基金资助项目(31071107)

摘　　要：目的:探讨多发性骨性连接综合征(SYNS)大家系的临床及遗传特征。方法:采用家系分析法探讨SYNS大家系的遗传规律,采用全基因组扫描和连锁分析法定位该家系的致病基因。结果:排除由NOG和GDF5基因突变导致的SYNS1和SYNS2型,发现1个新的SYNS致病基因位点。结论:SYNS存在一种新的遗传异质性,该致病基因定位于13q12。Objective To study the clinical and genetic characteristics of a large pedigree of multiple synostoses syndrome（SYNS）.Methods The genetic characteristics in this family was investigated by pedigree analysis.Genome-wide scan and linkage analysis were performed to localize the disease gene.Results SYNS1 and SYNS2 caused by NOG and GDF5 genes respectively were excluded and a new disease locus was defined.Conclusions A novel genetic heterogeneity of SYNS is found with the disease gene located at 13q12.

关 键 词：多发性骨性连接综合征 家系分析 全基因组扫描 连锁分析 遗传异质性 

分 类 号：R681.1[医药卫生—骨科学]