Article
Conventional molecular diagnosis of steroid 21-hydroxylase deficiency using mismatched primers and polymerase chain reaction.
Endocrine research - 1 Aug 1997
Tajima T, Mikami A, Fukushi M, Nakae J, Kikuchi Y, Fujieda K
Abstract excerpt
We tested a conventional method based on polymerase chain reaction (PCR) and specific primers with one mismatched base at the 3' end to introduce restriction enzyme sites in order to detect mutations of the CYP21 gene without radioisotope. Using this method, the intron 2 mutation causing aberrant...
Topics
- Adrenal Hyperplasia, Congenital
- Base Sequence
- DNA Mutational Analysis
- DNA Primers
- DNA Restriction Enzymes
- Exons
- Female
- Humans
- Male
- Mutation
- Pedigree
- Polymerase Chain Reaction