NDLI: A new DNA diagnostic system for the detection of human CYP21 gene mutations associated with adrenal cortex hyperplasia

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A new DNA diagnostic system for the detection of human CYP21 gene mutations associated with adrenal cortex hyperplasia

Content Provider	Springer Nature Link
Author	Barannik, A. P. Koltuva, A. A. Ozolinya, L. A. Lavrova, N. V. Shilov, I. A. Guzov, I. I. Patrushev, L. I.
Copyright Year	2010
Abstract	Congenital Adrenal Hyperplasia (CAH) is one of the most widespread severe autosomal recessive hereditary diseases. CAH is caused by the impaired biosynthesis of the key human hormones cortisol and aldosterone and is accompanied by the excess synthesis of androgens. Over 90% of CAH cases are caused by a deficiency of the steroid 21-hydrohylase (P450c21). The degree of damage in this enzyme is responsible for the severity of the clinical manifestation of CAH from potentially lethal to mild symptoms. Various mutations of the gene encoding this enzyme are the main source of the reduced activity of the steroid-21-hydrolase. The location of the highly homological pseudogene CYP21P in close proximity to the functional gene impedes the DNA diagnostics of CAH. To detect the eight most frequent CYP21 gene mutations associated with CAH, we developed a new real-time PCR-based system of DNA diagnostics using new allele-specific primers and TaqMan probes for the analyzed mutations. The method was primarily tested on artificial DNA templates, where the analyzed mutations were introduced by site-directed mutagenesis. Then, it was tested on DNA samples from 43 patients with clinical and biochemical manifestations of CAH; seven patients were used as a control. Two mutant alleles were detected in two different individuals: the nonsense Q318X and the missense V281L mutations.
Starting Page	325
Ending Page	335
Page Count	11
File Format	PDF
ISSN	10681620
Journal	Russian Journal of Bioorganic Chemistry
Volume Number	36
Issue Number	3
e-ISSN	1608330X
Language	English
Publisher	SP MAIK Nauka/Interperiodica
Publisher Date	2010-05-28
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	congenital adrenal hyperplasia (CAH) steroid-21-hydroxylase CYP21 mutations real-time PCR Biomedicine general Organic Chemistry Bioorganic Chemistry Biochemistry
Content Type	Text
Resource Type	Article
Subject	Organic Chemistry Biochemistry

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A new DNA diagnostic system for the detection of human CYP21 gene mutations associated with adrenal cortex hyperplasia