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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

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【作者】徐汪洋；丁晓毅；徐建强；张海国；杨江民；袁文涛；黄薇；王铸钢；吴晓林；顾鸣敏；

【Author】 XU Wang-yang1a,DING Xiao-yi1b,XU Jian-qiang1c,ZHANG Hai-guo1a,YANG Jiang-min2,YUAN Wen-tao3,HUANG Wei3,WANG Zhu-gang1a,WU Xiao-lin1a,GU Ming-min1a.1a.Department of Medical Genetics,Basic Medical College;1b.Department of Radiology,Ruijin Hospital,1c.Department of Orthopaedics,Ruijin Hospital,Shanghai Jiaotong University School of Medicine,Shanghai 200025,China;2.Department of Laboratory,Qinghai Chinese Medical Hospital,Qinghai Xining 810000;3.Chinese National Human Genome Centre at Shanghai,Shanghai 201203,China

【机构】上海交通大学医学院基础医学院医学遗传学教研室；上海交通大学医学院瑞金医院放射科；上海交通大学医学院瑞金医院骨科；青海省中医院检验科；上海人类基因组南方研究中心；

【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。更多还原

【Abstract】 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.更多还原

【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；
【Key words】 Multiple synostoses syndrome； Pedigree analysis； Genome-wide scan； Linkage analysis； Genetic heterogeneity；

【基金】国家自然科学基金资助项目(31071107)

【文献出处】诊断学理论与实践 ,Journal of Diagnostics Concepts & Practice , 编辑部邮箱 ,2011年02期

【分类号】R687.3
【被引频次】2
【下载频次】87

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