Table 1 Characteristics of the mutational analysis in the CYP21A2 gene
From: Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Mutation | Primers | Product of PCR (bp) | Restriction enzyme | Normal | Mutated |
|---|---|---|---|---|---|
Intron 2 | P7 P8 | 378 | HhaI | 378 | 24, 354 |
Pro-30-Leu | P5 P6 | 249 | HhaI | 21, 228 | 249 |
I172N | P11P2 | Taq I | 416 | 394 | |
Deletion 8-bp | P9 P10 | 89 | – | 89 | 81 |
Gln-318-Stop | P12 P13 | 136 | PstI | 25, 111 | 136 |