[Establishment of an allele-specific PCR method for direct screening of CYP21A2 gene mutation].

To establish an allele-specific PCR method for detect screening of CYP21A2 gene mutation.Allele-specific PCR primers and analogy primers were designed based on the sequence alignment of CYP21A2 and CYP21AP genes. Genomic DNA was extracted from blood specimens of 4 patients with 21-hydroxylase deficiency and 5 healthy controls and respectively amplified with allele-specific PCR primers and analogy primers and sequenced.Mutations of CYP21A2 including IVS2-13A/C>G, Arg356Trp and Arg149Pro were found with the established method in all of the 4 patients but not in the healthy controls. When detected with the analogy primers set, IVS2-13A/C>G and Arg356Trp were observed in both patients and healthy controls.The allele-specific PCR-based method is a simple, effective and reliable method for the detection of CYP21A2 gene mutation.