2.Funcriohal analysis of novel mutations P459H and R483W in 21-hydroxylase gene
Lulu SONG ; Ling JIANG ; Jiai WANG ; Hui WANG ; Haibin ZHOU ; Xiaoli ZHANG
Chinese Journal of Endocrinology and Metabolism 2009;25(2):150-151
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%.
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