{"title":"乌克兰先天性肾上腺增生患者CYP21A2基因突变分析。","authors":"S Yu Chernushyn, L A Livshits","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":23230,"journal":{"name":"TSitologiia i genetika","volume":"50 3","pages":"42-5"},"PeriodicalIF":0.0000,"publicationDate":"2016-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Analysis of CYP21A2 gene mutations in patients from Ukraine with congenital adrenal hyperplasia.\",\"authors\":\"S Yu Chernushyn, L A Livshits\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":23230,\"journal\":{\"name\":\"TSitologiia i genetika\",\"volume\":\"50 3\",\"pages\":\"42-5\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2016-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"TSitologiia i genetika\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"TSitologiia i genetika","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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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