人类甾体生成因子1基因变异体G146A的功能分析  

Functional analysis of human steroidogenic factor-1 variant G146A

作　　者：刘伟[1] 范吴强[1] 刘珉[1] 任颖[1] 

机构地区：[1]上海第二医科大学附属仁济医院内分泌科,200127

出　　处：《中华内分泌代谢杂志》2005年第3期261-262,共2页Chinese Journal of Endocrinology and Metabolism

摘　　要：本研究新发现一个人类甾体生成因子1(SF-1)变异体:SF-1-P(G146A, GGG→GCG)。与野生型相比,SF-1-P的转录激活活性下降25%,无显性负效应,蛋白稳定性如常,与转录协同因子的相互作用及活细胞亚核分布也无明显异常。等位基因C的分布频率在肾上腺皮质疾患人群明显上升。A novel human steroidogenic factor-1 (SF-1) variant (SF-1-P, G146A, GGG→GCG)was revealed. Compared to wild type, transactivity of SF-1-P was decreased by 25%, SF-1-P did not show negative effect, and had normal protein stability, normal interactions with cofactors and normal sub-nuclear distribution. Allele C frequency was significantly elevated in patients with adrenal diseases.

关 键 词：人类甾体生成因子1 基因变异体 G146A 基因功能 肾上腺皮质疾病 内分泌疾病 

分 类 号：R586[医药卫生—内分泌]