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| 一个先天性甲状腺功能亢进症家系的排除性定位分析 | |
| 引用本文： | 张守焰,王旭,杨钧国,孙图成,刘木根,王擎.一个先天性甲状腺功能亢进症家系的排除性定位分析[J].华中科技大学学报(医学版),2010,39(1). |
| 作者姓名： | 张守焰 王旭 杨钧国 孙图成 刘木根 王擎 |
| 作者单位： | 1. 华中科技大学同济医学院附属协和医院心血管病研究所,武汉,430022 2. 华中农业大学动物医学院,武汉,430070 3. 华中科技大学生命科学院分子生物物理教育部重点实验室,武汉,430074 |
| 基金项目： | 国家高技术研究发展计划重大专项子课题 |
| 摘 要： | 目的 对一个常染色体显性遗传的先天性甲状腺功能亢进症家系,进行与已知致病基因TSHR和THRB的连锁分析以确定此家系致病基因是否为这2个已知基因.方法 选择3个与TSHR和THRB紧密连锁的微卫星标记物D14S74、D3S2338和D3S1266,进行微卫星标记的基因连锁分析,采用Genemapper 3.5软件分析数据. 结果 3个微卫星标记物的LOD值均小于1,显示该家系致病基因与这3个位点均不连锁,提示该家系可能存在新致病基因. 结论 常染色体显性遗传类型的先天性甲状腺功能亢进症可能有新致病基因. |
| 关 键 词： | 先天性甲状腺功能亢进症 染色体显性遗传 微卫星 连锁分析 |
Exclusive Gene Mapping in an Congenital Hyperthyroidism Family |
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| Zhang Shouyan,Wang Xu,Yang Junguo,Su Tucheng,Liu Mu,Wang Qing.Exclusive Gene Mapping in an Congenital Hyperthyroidism Family[J].Journal of Huazhong University of Science and Technology(Health Sciences),2010,39(1). | |
| Authors: | Zhang Shouyan Wang Xu Yang Junguo Su Tucheng Liu Mu Wang Qing |
| Affiliation: | Zhang Shouyan1,Wang Xu2,Yang Junguo1 et al 1 Department of Cardiology,Union Hospital,Tongji Medical College,Huazhong University of Science , Technology,Wuhan 430022,China 2 Key Laboratory of Molecular Biophysics,Ministry of Education , Center for Human Genome Research,College of Life Science , Technology,Wuhan 430074,China |
| Abstract: | Objective Gene linkage would be processed in order to make sure if an autosomal dominant congenital hyperthyroidism family has genetic linking relationship with the known hyperthyroidism disease genes,TSHR or THRB.Methods Microsatellite marked gene linkage was done with the use of three microsatellite markers,D14S74,D3S2338 and D3S1266,whose chromosomal locations were very close to TSHR or THRB gene,and the results were analyzed by Genemapper 3.5 Software.Results LOD scores of the three markers were all les... |
| Keywords: | TSHR THRB congenital hyperthyroidism autosomal dominant TSHR THRB microsatellite linkage analysis |
| 本文献已被 CNKI 万方数据 等数据库收录！ | |
