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

被引：0
|
作者：
S. Yu. Chernushyn
L. A. Livshits
机构：
[1] The Institute of Molecular Biology and Genetics of NASU,
来源：
Cytology and Genetics | 2016年 / 50卷
关键词：
21-hydroxylase; congenital adrenal hyperplasia;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
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页码：183 / 186
页数：3
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