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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F11%3A7073" target="_blank" >RIV/00064203:_____/11:7073 - isvavai.cz</a>

Alternative codes found

RIV/65269705:_____/11:#0001296 RIV/00216224:14740/11:00051664 RIV/00216208:11130/11:7073 RIV/00064173:_____/11:#0000136 RIV/00216208:11120/11:00003167

Result on the web

<a href="http://www.ncbi.nlm.nih.gov/pubmed/20970527" target="_blank" >http://www.ncbi.nlm.nih.gov/pubmed/20970527</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

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

Original language 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. Approximately95% 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. In this study, we describe chimeric CYP21A1P/CYP21A2 genes detected in our patients with 21-hydroxylase deficiency (21OHD). Chimeric CYP21A1P/CYP21A2 genes were present in 171 out of 508 mutated CYP21A2 alleles (33.8%). We detected four typesof chimeric CYP21A1P/CYP21A2 genes: three of them have been described previously as CH-1, CH-3, CH-4, and one type is novel. The novel chimeric gene, termed CH-7, was detected in 21.4% of the mutant alleles. Possible causes of CYP21A1P/C

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2011

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

European Journal of Medical Genetics

ISSN

1769-7212

e-ISSN

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Volume of the periodical

54

Issue of the periodical within the volume

2

Country of publishing house

FR - FRANCE

Number of pages

6

Pages from-to

112-117

UT code for WoS article

000293744000003

EID of the result in the Scopus database

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