[Adrenogenital syndrome. II. Molecular biology].
The adrenogenital syndrome (AGS) is usually caused by steroid 21-hydroxylase deficiency. Two steroid 21-hydroxylase genes are present within the major histocompatibility complex (MHC) on chromosome 6: an active gene (CYP21) and a pseudogene (CYP21P). Several types of mutations have been described; these mutations can be categorized as gene deletions, gene duplications, gene conversions and smaller mutations inside the gene. Some of these cause a defect in the CYP21 gene, possibly resulting in 21-hydroxylase deficiency. Apart from the intrinsic scientific value of these results, the methods applied become increasingly important in diagnostics.
Koppens
P F
PF
Afd. Kindergeneeskunde, Academisch Ziekenhuis Rotterdam/Sophia Kinderziekenhuis.
Hoogenboezem
T
T
Degenhart
H J
HJ
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D015342:DNA Probes; D005805:Genes, MHC Class I / Q000235:genetics; D006801:Humans; D008285:Major Histocompatibility Complex / Q000235:genetics; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
D015342:DNA Probes; D013255:Steroid 21-Hydroxylase
Het adrenogenitaal syndroom. II. Moleculaire biologie.