乌克兰先天性肾上腺增生患者CYP21A2基因突变分析。

TSitologiia i genetika Pub Date : 2016-05-01
S Yu Chernushyn, L A Livshits
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引用次数: 0

摘要

本文介绍了CYP21A2基因突变(基因缺失/转换,c.290-13C>A/G, E110Vfs, I172N,突变簇I236N, V237E, M239K, V281L, Q318X, R356W)在乌克兰不同临床表型先天性肾上腺增生患者中的分布数据。研究组中最常见的突变(n = 27)是CYP21A2基因缺失/转换。讨论了所研究的突变在世界不同人群中的可能分布模式以及患者的基因型-表型关联。
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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, R356W) among Ukrainian patients with 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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