[1]路荣梅,李锦新,梁继兴,等.21-羟化酶缺乏症患者20例临床表型和基因突变分析[J].福建医药杂志,2021,43(01):10-14.
　LU Rongmei,LI Jinxin,LIANG Jixing,et al.Analysis of clinical symptoms and gene mutations in 20 patients with 21-hydroxylase deficiency[J].FUJIAN MEDICAL JOURNAL,2021,43(01):10-14.
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21-羟化酶缺乏症患者20例临床表型和基因突变分析()
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《福建医药杂志》[ISSN:1002-2600/CN:35-1071/R]

卷:
43
期数:
2021年01期
页码:
10-14
栏目:
临床研究
出版日期:
2021-02-10

文章信息/Info

Title:
Analysis of clinical symptoms and gene mutations in 20 patients with 21-hydroxylase deficiency
文章编号:
1002-2600(2021)01-0010-05
作者:
路荣梅; 李锦新; 梁继兴; 陈刚; 温俊平1
福建省立医院内分泌科(福州 350001)
Author(s):
LU Rongmei;  LI Jinxin;  LIANG Jixing;  CHEN Gang;  WEN Junping.
Department of Endocrinology, Fujian Provincial Hospital, Fuzhou,Fujian 350001, China
关键词:
21-羟化酶缺乏症;  CYP21A2;  单核苷酸多态性
Keywords:
21-hydroxylase deficiency;  CYP21A2;  single nucleotide polymorphism
分类号:
R586
文献标志码:
B
摘要:
目的 分析20例21-羟化酶缺失症(21-OHD)患者细胞色素P450c21(CYP21A2)基因型与临床表型的关系。方法 该项研究以2014-2019年就诊于福建省立医院的20例21-OHD患者以及部分患者家属为研究对象,经我院伦理委员会批准,在获得患者及其家属知情同意后提取其外周血基因组DNA,采用聚合酶链式反应(PCR),分两段扩增CYP21A2的全长,通过产物直接测序来确定患者的基因型。结果 20例患者共检出12种突变,其中8种致病突变,4种单核苷酸多态性突变。8种致病突变中占比较高的分别是p.I173N(55.6%)和IVS2-13A/C>G(27.8%)。同时还发现一种较罕见的突变位点R150P和一种新的复合纯合突变致病类型p.R484P+Arg484fs/R484P+Argfs。结论 PCR产物直接测序法能特异地测出CYP21A2的突变位点,通过与临床生化检测结果相结合可以为21-OHD的诊断提供更加确切的依据,便于其后续的疾病治疗和遗传咨询。
Abstract:
Objective To analyze the relationship between CYP21A2 genotype and clinical phenotype in 20 patients with 21-hydroxylase deficiency.Methods After approved by ethics committee of our hospital, the genomic DNA was extracted from the peripheral blood sample of 20 patients with 21-OHD, who were treated in department of endocrinology, Fujian Provincial Hospital between 2014 and 2019, and parts of their parents after obtaining the informed consent.All the 10 exons of CYP21A2 gene were amplified by PCR and directly sequenced to detect disease-causing mutations.Results Twelve kinds of mutations in CYP21A2 gene were found in this study.Eight of them were disease-causing mutations,and the rest were SNP.A relatively high proportion of the eight disease-causing mutations were p.I173N(55.6%)and IVS2-13A/C>G(27.8%).Meanwhile, a relatively rare mutation site R150P and a new compound homozygous pathogenic mutations p.R484P+Arg484fs/R484P+Argfs were found in this study.Conclusion The method in this study based on the direct sequencing can identify the mutations of CYP21A2 gene with high specificity.Directly sequenced combine with the clinical biochemical test results can provide more accurate evidence for the diagnosis of 21- hydroxylase deficiency.

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更新日期/Last Update: 2021-02-10