换一批
换一批21-羟化酶基因新突变P459H和R483W的功能学研究
Funcriohal analysis of novel mutations P459H and R483W in 21-hydroxylase gene
摘要对两个单纯男性化型21-羟化酶缺陷症(21-OHD)患者CYP21A2基冈突变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%.
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abstractsMutations 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%.
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分类号
R5
栏目名称
内分泌代谢病的基因多态性研究
DOI
10.3760/cma.j.issn.1000-6699.2009.02.006
发布时间
2009-06-02
基金项目
国家自然科学基金
山东省自然科学基金
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