Publication details
Kongenitální adrenální hyperplásie - záhadné případy, kazuistiky
| Title in English | Cogenital adrenal hyperplasia - cases, |
|---|---|
| Authors | |
| Year of publication | 2007 |
| Type | Article in Proceedings |
| Conference | Sborník abstrakt Celostátní sjezd Společnosti lékařské genetiky ČSL JEP a 40. výročí cytogenetické konference |
| MU Faculty or unit | |
| Citation | |
| Field | Genetics and molecular biology |
| Keywords | CAH; MLPA; congenital adrenal hyperplasia; CYP21 gene |
| Description | Congenital adrenal hyperplasia (CAH) is a group of recessively inherited diseases, in which cortisol secretion is impaired. More than 95% of all cases of CAH are due to deficiency of steroid 21-hydroxylase, a microsomal cytochrome P450. The disease is caused by mutations in the CYP21 gene encoding the steroid 21-hydroxylase. More than 90% of these mutations result from intragenic recombinations between CYP21 gene and the closely linked CYP21P pseudogene. It was described that approximately 20% of them are nonfunctional chimeric CYP21P/CYP21 genes due to unequal crossing-over during meiosis. The remaining molecular lesions are mutations normally present in CYP21P and transferred to CYP21 via gene conversions. DNA diagnosis of CAH is not simple procedure and failed or could not satisfactorily be closed at approximately 20% of our CAH families. The new methods such as MLPA and sequencing can be used for increasing of the effectiveness of mutation analysis of CAH. |
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