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21-羟化酶基因新突变P459H和R483W的功能学研究 被引量：1

Functional analysis of novel mutations P459H and R483W in 21-hydroxylase gene
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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 %.
作者 宋璐璐 蒋玲 王甲莉 王慧 周海斌 张晓黎
机构地区 山东大学齐鲁医院内分泌科 北京中日友好医院内分泌科 山东大学医学遗传学研究所
出处 《中华内分泌代谢杂志》 CAS CSCD 北大核心 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）
关键词 先天性肾上腺皮质增生症 CYP21基因 突变 酶活性测定 Congenital adrenal hyperplasia CYP21 gene Mutation Enzyme assay
分类号 R586 [医药卫生—内分泌] R734.2 [医药卫生—肿瘤]
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参考文献13

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二级参考文献14

  • 1张波,陆召麟,王玥,陶红.非经典型21-羟化酶缺乏症基因型和临床特征[J].中华内分泌代谢杂志,2005,21(1):43-46. 被引量：13
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  • 8Kharrat M, Tardy V, M'Rad R, et al. Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation. J Clin Endocrinol Metab ,2004,89:368-374.
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  • 10Mornet E, Gibrat JF. A 3D model of human P45c021 : study of the putative effects of steroid 21-hydroxylase gene mutations. Hum Genet, 2000, 106 : 330-339.

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中华内分泌代谢杂志
2009年 第2期

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