Junction Site Analysis of Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency | Zendy

Wuyan Chen | Zendy; Xu Zhi | Zendy; Anne Sullivan | Zendy; Gabriela P. Finkielstain | Zendy; Carol Van Ryzin | Zendy; Deborah P. Merke | Zendy; Nazli B. McDonnell | Zendy

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Junction Site Analysis of Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency

Author(s) -

Wuyan Chen,

Xu Zhi,

Anne Sullivan,

Gabriela P. Finkielstain,

Carol Van Ryzin,

Deborah P. Merke,

Nazli B. McDonnell

Publication year - 2011

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2011.174037

Subject(s) - 21 hydroxylase , genetics , gene , biology , microbiology and biotechnology

Chimeric CYP21A1P/CYP21A2 genes, caused by homologous recombination between CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2) and its highly homologous pseudogene CYP21A1P (cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene), are common in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD). A comprehensive junction site analysis of chimeric CYP21A1P/CYP21A2 genes is needed for optimizing genetic analysis strategy and determining clinical relevance.

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