[Congenital dysfunction of adrenal cortex - detection of new mutant gene of 21-hydroxylase]. / Vrozhdennaia disfunktsiia kory nadpochechnikov - obnaruzhenie novoi mutatsii gena 21-gidroksilazy.

ABSTRACT

The paper presents the results of investigations of 30 Slavic families with different types of congenial adrenal hyperplasia (CAH). The classic types of CAH were established to be associated with HLA B14 in most cases. This fact proves the presence of new mutation of 21-hydroxylase (21-OH) gene. The nature of this mutation was studied by polymerase chain reactions in two points 3rd and 8th exons. The mutation in the third exon was recorded as deletion of 8 nucleotide pairs. The 8th exon appeared to be unchanged. The mutation in the homozygotic state causes a salt-losing type of disease with marked decreases in 21-OH activity. A significant decreases of 21-OH activity were also detected in the heterozygotic carriers during ACTH stimulation. This mutation was discovered in 28% of chromosomes of patients with salt-losing type of CAH.