Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F12%3A8172" target="_blank" >RIV/00064203:_____/12:8172 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/12:8172 RIV/00216208:11120/12:43896703 RIV/00064173:_____/12:43896703

Result on the web

<a href="http://dx.doi.org/10.1111/j.1365-2265.2012.04358.x" target="_blank" >http://dx.doi.org/10.1111/j.1365-2265.2012.04358.x</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone

Original language description

Background Neonatal screening for congenital adrenal hyperplasia (CAH) identifies a certain proportion of newborns with transient moderate elevation of 17-hydroxyprogesterone (17-OHP). These children require regular follow-up until normalization of their17-OHP levels. We investigated the possibility of reducing the individuals' recall rates by using genetic methods on their original neonatal dried blood spots. Patients and Methods We analysed neonatal dried blood spots from 753 subjects with transiently elevated levels of 17-OHP. The CYP21A2 gene was sequenced to detect point mutations, and the presence of CYP21A2 was further confirmed by two methods utilizing the difference between CYP21A2 and its CYP21A1P pseudogene in the sequence of exon 3 (8-bp deletion). The accuracy of the methods was verified using samples from 70 subjects with known CYP21A2 mutations and 181 healthy children. Result Among the 701 successfully sequenced samples from subjects with transiently elevated 17-OHP, 6

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

FB - Endocrinology, diabetology, metabolism, nutrition

OECD FORD branch

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Project

<a href="/en/project/NS9981" target="_blank" >NS9981: Analysis of CYP21 genes in newborns with mild elevated 17-hydroxyprogesterone level.</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2012

Confidentiality

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

Name of the periodical

Clinical Endocrinology

ISSN

0300-0664

e-ISSN

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Volume of the periodical

77

Issue of the periodical within the volume

2

Country of publishing house

GB - UNITED KINGDOM

Number of pages

8

Pages from-to

187-194

UT code for WoS article

000306223400004

EID of the result in the Scopus database

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