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.
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2010年第11期973-975,共3页
Chinese Journal of Endocrinology and Metabolism