Analysis of CYP21A2 gene mutations in patients from Ukraine with congenital adrenal hyperplasia

In the article, the data on the distribution of CYP21A2 gene mutations (gene deletion/conversion, c.290-13C>A/G, E110Vfs, I172N, cluster of mutations I236N, V237E, M239K, V281L, Q318X, and R356W) among Ukrainian patients with CAH (congenital adrenal hyperplasia) of different clinical phenotypes a...

Full description

Saved in:
Bibliographic Details
Published inCytology and genetics Vol. 50; no. 3; pp. 183 - 186
Main Authors Chernushyn, S. Yu, Livshits, L. A.
Format Journal Article
LanguageEnglish
Published New York Allerton Press 01.05.2016
Subjects
Biomedical and Life Sciences
Biomedicine
Human Genetics
congenital adrenal hyperplasia
21-hydroxylase
Online AccessGet full text

Cover

More Information
Summary:In the article, the data on the distribution of CYP21A2 gene mutations (gene deletion/conversion, c.290-13C>A/G, E110Vfs, I172N, cluster of mutations I236N, V237E, M239K, V281L, Q318X, and R356W) among Ukrainian patients with CAH (congenital adrenal hyperplasia) of different clinical phenotypes are presented. The most common mutation in the studied group ( n = 27) is the CYP21A2 gene deletion/conversion. Possible patterns of the studied mutations distribution in different populations of the world and the patients’ genotype–phenotype association are discussed.
ISSN:0095-4527
1934-9440
DOI:10.3103/S0095452716030026