PCR Based Diagnosis of 21-hydroxylase Gene Defects in Slovak Patients with Congenital Adrenal Hyperplasia

Pinterova, L. and Garami, Miklós and Pribilincova, Z. and Behulova, R. and Mezenska, R. and Lukacova, M. and Zorad, S. (2000) PCR Based Diagnosis of 21-hydroxylase Gene Defects in Slovak Patients with Congenital Adrenal Hyperplasia. Endocrine Regulations, 34 (2). pp. 65-72. ISSN 1210-0668

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Abstract

Objective. To analyse 21-hydroxylase gene for 8 most common mutations in patients with saltwasting 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.

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