[Characterization of new splicing mutation in steroid 21-hydroxylase gene]

Bioorg Khim. 2011 Nov-Dec;37(6):815-20. doi: 10.1134/s1068162011060124.
[Article in Russian]

Abstract

Novel mutation in CYP21A2 gene causing the steroid 21-hydroxylase deficiency - C to G substitution in 7-position ofintron 2 acceptor splice site (c.290-7C>G) was identified. The effect of the mutation on splicing was checked in the system of CYP21A minigene expression in the cultured mammalian cells. The mutation impairs the usage of intron 2 acceptor splice site resulting in intron retention.

MeSH terms

  • Adrenal Hyperplasia, Congenital / genetics*
  • Alternative Splicing / genetics
  • Base Sequence
  • Female
  • HEK293 Cells
  • Humans
  • Molecular Sequence Data
  • Mutation
  • RNA Splice Sites / genetics*
  • Steroid 21-Hydroxylase / genetics*

Substances

  • RNA Splice Sites
  • Steroid 21-Hydroxylase

Supplementary concepts

  • Adrenal hyperplasia, congenital, type 5