21-羟化酶基因新突变P459H和R483W的功能学研究  

Functional analysis of novel mutations P459H and R483W in 21-hydroxylase gene

作　　者：宋璐璐[1] 蒋玲[1] 王甲莉[1] 王慧[2] 周海斌[3] 张晓黎[1] 

机构地区：[1]山东大学齐鲁医院内分泌科,济南250012 [2]北京中日友好医院内分泌科 [3]山东大学医学遗传学研究所,济南

出　　处：《中华内分泌代谢杂志》2009年第2期150-151,共2页Chinese Journal of Endocrinology and Metabolism

基　　金：基金项目：国家自然科学基金资助项目（30871182）;山东省自然基金资助项目（Y2007C105）

摘　　要：对两个单纯男性化型21-羟化酶缺陷症（21-OHD）患者CYP21A2基因突变P459H和R483W进行体外功能学研究，构建携带点突变P459H和R483W的真核表达载体，转染哺乳动物细胞COS-7，测定孕酮转化为11．脱氧皮质酮的转化率，P459H突变的21-羟化酶残余活性为6．8％，R483W则为2．9％。Mutations P459H and R483W detected in CYP21A2 gene in two Chinese patients with simple virilizing 21-hydroxylase deficiency were studied. Plasmid vectors containing P459H and R483W were constructed and transfected into COS-7 cells. The converting rate of progesterone to 11-desoxycortisone was calculated. P459H reduce 21-hydroxylase activity to 6.8 % , while the residual enzyme activity of R483W was only 2.9 %.

关 键 词：先天性肾上腺皮质增生症 CYP21基因 突变 酶活性测定 

分 类 号：R586[医药卫生—内分泌] R734.2[医药卫生—内科学]