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  5. 中国人群Graves病易感区段-TSHR基因的精细定位

中国人群Graves病易感区段-TSHR基因的精细定位

来源 :中华医学会第十二次全国内分泌学学术会议 | 被引量 : 0次 | 上传用户：nixiangtama
【摘 要】
：
目的:我们前期的GWAS研究发现,促甲状腺激素抗体(TSHR)区段是Graves病(GD)的一个易感区段.本研究是为了进一步明确该区段的GD易感基因和易感位点.方法:GWAS阶段运用Illumina公司Human660-Quad BeadChips对1,536 GD患者和1,516性别地区匹配的正常对照进行全基因组的SNP基因分型,验证阶段运用Fludigm公司EP1基因分型系统对11 tagSN
【作 者】
：
潘春明 
【机 构】
：
上海交通大学医学院附属瑞金医院医学基因组学国家重点实验室 200025
【出 处】
：
中华医学会第十二次全国内分泌学学术会议
【发表日期】
：
2013年7期
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论文部分内容阅读
目的:我们前期的GWAS研究发现,促甲状腺激素抗体(TSHR)区段是Graves病(GD)的一个易感区段.本研究是为了进一步明确该区段的GD易感基因和易感位点.方法:GWAS阶段运用Illumina公司Human660-Quad BeadChips对1,536 GD患者和1,516性别地区匹配的正常对照进行全基因组的SNP基因分型,验证阶段运用Fludigm公司EP1基因分型系统对11 tagSNPs进行基因分型;GWAS阶段应用PLINK30软件趋势检验做的关联分析及逻辑回归分析,参考千人基因组计划数据库运用IMPUTE v2软件进行Imputation分析同时应用ProbABEL34软件进行关联分析,验证阶段应用Haploview软件进行连锁分析和关联分析.
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