Funcriohal analysis of novel mutations P459H and R483W in 21-hydroxylase gene
10.3760/cma.j.issn.1000-6699.2009.02.006
- VernacularTitle:21-羟化酶基因新突变P459H和R483W的功能学研究
- Author:
Lulu SONG
;
Ling JIANG
;
Jiai WANG
;
Hui WANG
;
Haibin ZHOU
;
Xiaoli ZHANG
- Publication Type:Journal Article
- Keywords:
Congenital adrenal hyperplasia;
CYP2 1 gene;
Mutation;
Enzyme assay
- From:
Chinese Journal of Endocrinology and Metabolism
2009;25(2):150-151
- CountryChina
- Language:Chinese
-
Abstract:
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%.
