Article
PCR based diagnosis of 21-hydroxylase gene defects in Slovak patients with congenital adrenal hyperplasia.
Endocrine regulations - 1 Jun 2000
Pinterova L, Garami M, Pribilincova Z, Behulova R, Mezenska R, Lukacova M, Zorad S
Abstract excerpt
OBJECTIVE: To analyse 21-hydroxylase gene for 8 most common mutations in patients with salt-wasting type of congenital adrenal hyperplasia. METHODS: Allele specific PCR performed on 8 salt-wasting CAH patients and their 23 healthy relatives. RESULTS: Two patients were homozygous for 8 bp deletion...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Alleles
- Child
- Child, Preschool
- DNA
- Exons
- Female
- Gene Deletion
- Humans
- Male
- Polymerase Chain Reaction
- Slovakia
- Steroid 21-Hydroxylase