山西省21-羟化酶缺乏症基因型与临床表型相关性分析

发布时间：2018-04-24 01:30

本文选题：肾上腺皮质疾病 + -羟化酶缺乏症　；参考：《中国药物与临床》2017年08期

【摘要】：目的研究山西省21-羟化酶缺乏症患儿的基因突变,探讨基因型和临床表型的相关性。方法回顾性分析2014年1月至2016年10月山西省儿童医院收治的15例21-羟化酶缺乏症患儿的临床资料,采用Sanger测序法进行CYP21A2基因突变分析。CYP21A2基因检测结果与其临床表型进行比较,分析基因型与临床表型的相关性。结果 (1)本组15例患儿均为经典型患者,其中失盐型(SW)8例,单纯男性化型(SV)7例。(2)15例患儿共检测出7种突变,包括IVS2-13A/CG、I172N、R356W、E3Δ8bp、c.1064GA、c.141CA、c.121CT。最常见的突变为IVS2-13A/CG(40%),其余常见突变依次为R356W(17%)、I172N(17%)及E3Δ8bp(7%)。SW最常见的突变为IVS2-13A/CG和R356W,其等位基因频率分别达50%和19%。SV患者最常见的突变为I172N,其等位基因频率为36%。(3)SW、SV中基因型与临床表型的阳性预测值分别为88%、100%。结论 IVS2-13A/CG、R356W、I172N为21-羟化酶缺乏症患儿常见突变,山西省热点突变为IVS2-13A/CG。经典型患儿基因型与临床表型具有明显相关性。
[Abstract]:Objective to study the gene mutation of 21-hydroxylase deficiency children in Shanxi province and to explore the correlation between genotype and clinical phenotype. Methods the clinical data of 15 children with 21-hydroxylase deficiency in Shanxi Children's Hospital from January 2014 to October 2016 were retrospectively analyzed. The results of CYP21A2 gene mutation analysis and CYP21A2 gene detection were compared with the clinical phenotype by Sanger sequencing. To analyze the correlation between genotype and clinical phenotype. Results (1) all the 15 cases were classic type, including 8 cases of desalted type and 7 cases of simple masculine type of SVN. Seven mutations were detected in 15 cases, including IVS2-13A / CGI172NV R356WN E3 螖 8bpc.1064GAc.141CAc. 121CT. The most common mutations were IVS2-13A / CGN 40g, the other common mutations were R356Wf17, and E3 螖 8bp(7%).SW were IVS2-13A/CG and R356W. the allelic frequencies were 50% and I172Nin 19%.SV patients, respectively. The positive predictive value of type A was 88% and 100%, respectively. Conclusion IVS2-13A / CGR 356WN I172N is a common mutation in children with 21-hydroxylase deficiency, and the hot spot mutation in Shanxi Province is IVS2-13A / CG. There was a significant correlation between genotypes and clinical phenotypes of classical children.
【作者单位】：山西省儿童医院内分泌遗传代谢科;山西医科大学研究生院;
【分类号】：R725.8

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