Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia

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Authors

VRZALOVÁ Zuzana HRUBÁ Zuzana HRABINCOVÁ Eva VRÁBELOVÁ Slávka VOTAVA Felix KOLOUŠKOVÁ Stanislava FAJKUSOVÁ Lenka

Year of publication 2011
Type Article in Periodical
Magazine / Source European Journal of Medical Genetics
MU Faculty or unit

Central European Institute of Technology

Citation
Doi http://dx.doi.org/10.1016/j.ejmg.2010.10.005
Field Genetics and molecular biology
Keywords Congenital adrenal hyperplasia; chimeric gene
Description Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by an enzymatic deficiency which impairs the biosynthesis of cortisol and, in the majority of severe cases, also the biosynthesis of aldosterone. Approximately 95% of all CAH cases are caused by mutations in the steroid 21-hydroxylase gene (CYP21A2). The CYP21A2 gene and its inactive pseudogene (CYP21A1P) are located within the HLA class III region of the major histocompatibility complex (MHC) locus on chromosome 6p21.3.
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