假性甲状旁腺功能减退症Ib型与GNASl基因启动子甲基化的研究  

Analysis of promoter methylation of GNAS1 gene in pseudohypoparathyroidism type Ib

作　　者：张小丽[1] 孙良阁[1] 刘爽[1] 马笑堃[1] 董义光[1] 秦贵军[1] 翟绍忠[1] 栗夏莲[1] 吴文迅[1] 

机构地区：[1]郑州大学第一附属医院内分泌科,450052

出　　处：《中华内分泌代谢杂志》2010年第11期973-975,共3页Chinese Journal of Endocrinology and Metabolism

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.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.

关 键 词：甲基化特异性PCR 假性甲状旁腺功能减退症Ib型 GNASl 

分 类 号：R686[医药卫生—骨科学]