PCR based diagnosis of 21-hydroxylase gene defects in Slovak patients with congenital adrenal hyperplasia.
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 found 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.
Institute of Experimental Endocrinology, Bratislava, Slovakia, ueenpint@savba.savba.sk
L
L
Pinterova
M
M
Garami
Z
Z
Pribilincova
R
R
Behulova
R
R
Mezenska
M
M
Lukacova
S
S
Zorad
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology*; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D018154:Slovakia; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
D004247:DNA; D013255:Steroid 21-Hydroxylase