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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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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.
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
机构地区 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
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)
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 Multiple synostoses syndrome Pedigree analysis Genome-wide scan Linkage analysis Genetic heterogeneity
分类号 R681.1 [医药卫生—骨科学]
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参考文献12

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二级参考文献17

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2011年 第2期

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