| 假性甲状旁腺功能减退症Ib型与GNAS1基因启动子甲基化的研究 |
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| 引用本文： | 张小丽,孙良阁,刘爽,马笑堃,董义光,秦贵军,翟绍忠,栗夏莲,吴文迅. 假性甲状旁腺功能减退症Ib型与GNAS1基因启动子甲基化的研究[J]. 中华内分泌代谢杂志, 2010, 26(11). DOI: 10.3760/cma.j.issn.1000-6699.2010.11.014 |
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| 作者姓名： | 张小丽 孙良阁 刘爽 马笑堃 董义光 秦贵军 翟绍忠 栗夏莲 吴文迅 |
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| 作者单位： | 郑州大学第一附属医院内分泌科,450052 |
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| 摘 要： | 以甲基化特异性PCR检测假性甲状旁腺功能减退症Ib型(PHPIb)GNAS1基因启动子甲基化情况,结果显示7例患者均存在外显子1A区域的甲基化缺失,提示GNAS1基因外显子1A甲基化缺失可能是PHPIb的致病原因.
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| 关 键 词： | 甲基化特异性PCR 假性甲状旁腺功能减退症Ib型 |
Analysis of promoter methylation of GNAS1 gene in pseudohypoparathyroidism type Ib |
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| ZHANG Xiao-li,SUN Liang-ge,LIU Shuang,MA Xiao-kun,DONG Yi-guang,QIN Gui-jun,ZHAI Shao-zhong,LI Xia-lian,WU Wen-xun. Analysis of promoter methylation of GNAS1 gene in pseudohypoparathyroidism type Ib[J]. Chinese Journal of Endocrinology and Metabolism, 2010, 26(11). DOI: 10.3760/cma.j.issn.1000-6699.2010.11.014 |
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| Authors: | ZHANG Xiao-li SUN Liang-ge LIU Shuang MA Xiao-kun DONG Yi-guang QIN Gui-jun ZHAI Shao-zhong LI Xia-lian WU Wen-xun |
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| Abstract: | The methylation status of GNAS1 gene in pseudohypoparathyroidism type Ib patients was detected by methylation-specific PGR technique. There was an abnormal methylation of 1A region in all seven PHPIb patients. Loss of exon 1A methylation (imprinting defect) seems to be the cause of PHPIb. |
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| Keywords: | GNAS1 |
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