Analysis of promoter methylation of GNAS1 gene in pseudohypoparathyroidism type Ib

VernacularTitle: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
Author: Xiaoli ZHANG ; Liangge SUN ; Shuang LIU ; Xiaokun MA ; Yiguang DONG ; Guijun QIN ; Shaozhong ZHAI ; Xialian LI ; Wenxun WU
Publication Type:Journal Article
Keywords: Methylation-specific PGR; Pseudohypoparathyroidism type Ib; GNAS1
From: Chinese Journal of Endocrinology and Metabolism 2010;26(11):973-975
CountryChina
Language:Chinese
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.