Informace o publikaci
Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency
| Autoři | |
|---|---|
| Rok publikování | 2010 |
| Druh | Článek v odborném periodiku |
| Časopis / Zdroj | INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE |
| Fakulta / Pracoviště MU | |
| Citace | |
| Doi | http://dx.doi.org/10.3892/ijmm_00000504 |
| Obor | Genetika a molekulární biologie |
| Klíčová slova | congenital adrenal hyperplasia; steroid 21-hydroxylase; 21-hydroxylase deficiency; pseudogene; chimeric gene |
| Popis | Congenital adrenal hyperplasia (CAH) is comprised of a group of autosomal recessive disorders caused by an enzymatic deficiency which impairs the biosynthesis of cortisol and, in most of the severe cases, also the biosynthesis of aldosterone. Approximately 90-95% of all the CAH cases are due to mutations in the steroid 21-hydroxylase gene (CYP21A2). In this study, the molecular genetic analysis of CYP21A2 was performed in 267 Czech probands suspected of 21-hydroxylase deficiency (21OHD). 21OHD was confirmed in 241 probands (2 mutations were detected). A set of 30 different mutant alleles was determined. |
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