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[1]路榮梅,李錦新,梁繼興,等.21-羥化酶缺乏癥患者20例臨床表型和基因突變分析[J].福建醫(yī)藥雜志,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-羥化酶缺乏癥患者20例臨床表型和基因突變分析()
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《福建醫(yī)藥雜志》[ISSN:1002-2600/CN:35-1071/R]

卷:
43
期數(shù):
2021年01期
頁碼:
10-14
欄目:
臨床研究
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
文章編號:
1002-2600(2021)01-0010-05
作者:
路榮梅; 李錦新; 梁繼興; 陳剛; 溫俊平1
福建省立醫(yī)院內(nèi)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
關(guān)鍵詞:
21-羥化酶缺乏癥;  CYP21A2;  單核苷酸多態(tài)性
Keywords:
21-hydroxylase deficiency;  CYP21A2;  single nucleotide polymorphism
分類號:
R586
文獻標志碼:
B
摘要:
目的 分析20例21-羥化酶缺失癥(21-OHD)患者細胞色素P450c21(CYP21A2)基因型與臨床表型的關(guān)系。方法 該項研究以2014-2019年就診于福建省立醫(yī)院的20例21-OHD患者以及部分患者家屬為研究對象,經(jīng)我院倫理委員會批準,在獲得患者及其家屬知情同意后提取其外周血基因組DNA,采用聚合酶鏈式反應(yīng)(PCR),分兩段擴增CYP21A2的全長,通過產(chǎn)物直接測序來確定患者的基因型。結(jié)果 20例患者共檢出12種突變,其中8種致病突變,4種單核苷酸多態(tài)性突變。8種致病突變中占比較高的分別是p.I173N(55.6%)和IVS2-13A/C>G(27.8%)。同時還發(fā)現(xiàn)一種較罕見的突變位點R150P和一種新的復合純合突變致病類型p.R484P+Arg484fs/R484P+Argfs。結(jié)論 PCR產(chǎn)物直接測序法能特異地測出CYP21A2的突變位點,通過與臨床生化檢測結(jié)果相結(jié)合可以為21-OHD的診斷提供更加確切的依據(jù),便于其后續(xù)的疾病治療和遺傳咨詢。
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