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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

徐汪洋顾鸣敏丁晓毅徐建强张海国杨江民袁文涛黄薇王铸钢吴晓林

诊断学理论与实践2011，Vol.10Issue(2)：117-121,5.

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

徐汪洋 ¹顾鸣敏 ¹丁晓毅 ²徐建强 ³张海国 ¹杨江民 ⁴袁文涛 ⁵黄薇 ⁵王铸钢 ¹吴晓林¹

作者信息

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
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摘要

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. Genomewide 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

医药卫生

引用本文复制引用

徐汪洋,顾鸣敏,丁晓毅,徐建强,张海国,杨江民,袁文涛,黄薇,王铸钢,吴晓林..多发性骨性连接综合征大家系的临床观察及遗传学研究[J].诊断学理论与实践,2011,10(2):117-121,5.

基金项目

国家自然科学基金资助项目(31071107) （31071107）

诊断学理论与实践

OACSTPCD

ISSN：1671-2870

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