Nonisotopic identification of two point mutations in the CYP21 gene responsible for nonclassic 21-hydroxylase deficiency.
A simple nonradioactive method was developed for identification of the Pro-30-Leu and Val-281-Leu mutant alleles in the CYP21B gene. Not only does this approach improve mutation analysis for patients with the late onset form of 21-hydroxylase deficiency, but it also decreases problems with interference by the CYP21A pseudogene sequence.
Shevtsov
S P
SP
St. Petersburg Institute of Nuclear Physics, Russian Academy of Sciences, St. Petersburg.
Rechitsky
S
S
Verlinsky
O
O
Schwartz
E I
EI
D000312:Adrenal Hyperplasia, Congenital; D001483:Base Sequence; D003062:Codon; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
D003062:Codon; D013255:Steroid 21-Hydroxylase