[Molecular biology of the adrenogenital syndrome. New possibilities of heterozygote screening].
The adrenogenital syndrome is one of the most frequent metabolic diseases. This disorder of adrenal biosynthesis can now be classified unequivocally on the basis of molecular biological techniques. In its classical form, this disease is characterized by loss of the gene region which codes for adrenal 21-hydroxylase. The techniques of gene analysis enable unequivocal identification of carriers of heterozygotic and homozygotic features and hence affords the basis for a rational concept for therapy of this disease.
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics; D004247:DNA / Q000235:genetics; D005260:Female; D005796:Genes; D006580:Genetic Carrier Screening / Q000379:methods*; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization; D013255:Steroid 21-Hydroxylase / Q000235:genetics
D006680:HLA Antigens; D004247:DNA; D013255:Steroid 21-Hydroxylase
Untersuchungen zur molekularen Biologie des adrenogenitalen Syndroms. Neue Möglichkeiten des Hetero-Zygoten-Screening.