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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 被引量：5

Analysis of promoter methylation of GNAS1 gene in pseudohypoparathyroidism type Ib
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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. 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.
作者 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
机构地区 郑州大学第一附属医院内分泌科
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
关键词 甲基化特异性PCR 假性甲状旁腺功能减退症Ib型 GNASl Methylation-specific PCR Pseudohypoparathyroidism type Ib GNAS1
分类号 R686 [医药卫生—骨科学]
  • 相关文献

参考文献9

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二级参考文献11

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共引文献5

同被引文献33

  • 1密红翠,澹台林芳,冯清仪,白萱.假性甲状旁腺机能减退症1例报告[J].中国医师杂志,2005,7(5):696-696. 被引量：3
  • 2孙立昊,张帆,刘建民,赵红燕,崔斌,宁光.假性甲状旁腺功能减退症Ⅰa型基因诊断二例报道[J].上海交通大学学报（医学版）,2006,26(1):28-29. 被引量：6
  • 3蓝薇,张帆,戴亚丽,刘建民,孙立昊,赵红燕,崔斌,宁光.假性甲状旁腺功能减退症Ia型与GNAS1基因突变的研究——附一家系报告[J].罕少疾病杂志,2006,13(3):6-9. 被引量：6
  • 4姚佳琦,任跃忠.假性甲状旁腺功能减退症的研究进展[J].国际内分泌代谢杂志,2007,27(5):321-324. 被引量：7
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  • 8Jan de Beur S, Ding C, Germain-Lee E, et al. Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1 b revealed by inconsistent loss of maternal imprinting at GNAS1. Am J Hum Genet, 2003,73:314-322.
  • 9Aldred MA. Genetics of pseudohypoparathyroidism types Ia and Ic. J Pediatr Endocrinal Metab, 2006.19:635-640.
  • 10Thiele S, Wemer R, Ahrens W, et al. A disruptive mutation in exon 3 of the GNAS gene with Albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsc~-L deficiency. J Clin Endocrinol Metab, 2007,92:1764- 1768.

引证文献5

二级引证文献5

中华内分泌代谢杂志
2010年 第11期

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