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

• 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
• 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.

Related projects

• Molecular basis of cell and tissue regulations
• Integrované bioanalytické technologie pro mikroanalýzy a diagnostiku s využitím LIF a hmotnostní spektrometrie