title: [Characterization of new splicing mutation in steroid 21-hydroxylase gene].
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.
authors.forename: P M
authors.initials: PM
authors.lastname: Rubtsov
authors.forename: E L
authors.initials: EL
authors.lastname: Igudin
authors.forename: M Iu
authors.initials: MIu
authors.lastname: Pichugina
authors.forename: P V
authors.initials: PV
authors.lastname: Spirin
authors.forename: V S
authors.initials: VS
authors.lastname: Prasolov
authors.forename: A N
authors.initials: AN
authors.lastname: Tul'pakov
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D017398:Alternative Splicing / Q000235:genetics; D001483:Base Sequence; D005260:Female; D057809:HEK293 Cells; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D022821:RNA Splice Sites / Q000235:genetics*; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D022821:RNA Splice Sites; D013255:Steroid 21-Hydroxylase