PCR based diagnosis of 21-hydroxylase gene defects in slovak patients with congenital adrenal hyperplasia

L. Pinterova, M. Garami, Z. Pribilincova, R. Behulova, R. Mezenska, M. Lukacova, S. Zorad

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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 in exon 3, while 6 patients were homozygous for intron 2 splice mutation. Mutant allele for splice mutation was find also in both parents of patients with this type of mutation. Conclusions. These preliminary results show that only two mutations, 8 bp deletion in exon 3 and splice mutation in intron 2, were present in this group of Slovak patients with salt-wasting type of congenital adrenal hyperplasia.

Original languageEnglish
Pages (from-to)65-72
Number of pages8
JournalEndocrine regulations
Volume34
Issue number2
Publication statusPublished - Jun 1 2000

Keywords

  • 21-hydroxylase
  • Allele specific PCR
  • CYP21 gene
  • Congenital adrenal hyperplasia
  • Slovak population

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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    Pinterova, L., Garami, M., Pribilincova, Z., Behulova, R., Mezenska, R., Lukacova, M., & Zorad, S. (2000). PCR based diagnosis of 21-hydroxylase gene defects in slovak patients with congenital adrenal hyperplasia. Endocrine regulations, 34(2), 65-72.