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CYP21A2基因纯合或杂合大片段缺失与21-羟化酶缺陷症临床表现的关系 被引量:3

Molecular and clinical study on homozygous or heterozygous large deletion of CYP21A2 gene in 21-OHD patients
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摘要 目的旨在探究CYP21A2基因完全纯合或杂合大片段缺失与21-羟化酶缺陷症(21-OHD)临床表现的关系。方法纳入2016年6月至2017年12月于北京协和医院就诊的21-OHD患者100例。用多重连接探针扩增技术(MLPA)检测CYP21A2基因大片段缺失,同时采用PCR扩增和Sanger测序明确患者除大片段缺失外的其他CYP21A2基因突变。分析存在纯合或杂合大片段缺失患者的生化检测结果和临床症状,探究CYP21A2基因完全或单等位基因缺失的21-OHD患者的表型特点。结果经MLPA检测,33例患者检出CYP21A2基因完全缺失,男13例,女20例,年龄10(6,16)岁。其中2例为两个等位基因同时缺失。31例杂合缺失的患者,16例合并严重影响21-羟化酶活性的其他基因突变,即I2G和Q318X;15例合并保留部分酶活性的另一等位基因突变,即I172N和P30L。CYP21A2基因完全缺失的2例患者与单等位基因缺失合并另一严重影响酶活性的基因突变患者相比,其生化检查和临床表现没有明显差别,两者均表现为较严重的失盐型。单等位基因缺失合并保留部分酶活性的基因突变患者在临床上表现为较轻的单纯男性化型。结论21-OHD患者可由CYP21A2基因的两个等位基因完全缺失导致,其临床表型为失盐型,与其他对酶活性产生严重影响的基因突变导致的临床表型无差异。 Objective To explore the relationship between homozygous or heterozygous large deletion of CYP21A2 gene and clinical manifestation in 21-hydroxylase deficiency (21-OHD) patients.Methods The records of 100 patients with 21-OHD were collected between June 2016 and December 2017 in Peking Union Medical College Hospital.Large deletion of CYP21A2 gene was detected by multiplex ligation probe amplification (MLPA).The biochemical results and clinical symptoms of patients with homozygous or heterozygous large deletion were analyzed in order to investigate the influence of complete or single allele deletion of CYP21A2 gene on 21-OHD patients.Results Large deletion of CYP21A2 gene was detected in 33 patients by MLPA,including 13 males and 20 females,with an median age of 10 (6,16) years.Two of them had simultaneous deletions of two alleles.Among 31 patients with heterozygous deletion,16 were combined with gene mutations that severely affected 21-hydroxylase enzyme activity (I2G and Q318X),15 with mutations that retained part enzyme activity (I172N and P30L).Two patients with complete deletion of CYP21A2 gene had no significant difference in biochemical and clinical manifestations compared with those with single allele deletion combined with another gene mutation that severely affected enzyme activity.Both kinds of patients above were manifested as severe salt-wasting type.Patients with a single allele deletion and a mutation retaining part enzyme activity were manifested as mild simple-viralizing type.ConclusionLarge deletion of CYP21A2 gene could appear in 21-OHD patients and the phenotype is similar to that of salt-wasting patients with heterozygous large deletion.
作者 高寅洁 于冰青 卢琳 童安莉 陈适 茅江峰 王曦 伍学焱 聂敏 Gao Yinjie;Yu Bingqing;Lu Lin;Tong Anli;Chen Shi;Mao Jiangfeng;Wang Xi;Wu Xueyan;Nie Min(Department of Endocrinology,Peking Union Medical College Hospital,Key Laboratory of Endocrinology,National Health Commission,Beijing 100730,China)
出处 《中华医学杂志》 CAS CSCD 北大核心 2019年第12期912-917,共6页 National Medical Journal of China
基金 国家自然科学基金(81771576) 2016国家重点研发课题(2016YFC0905102).
关键词 21-羟化酶缺陷症 基因扩增 基因缺失 CYP21A2基因 21-hydroxylase deficiency Gene amplification Gene deletion CYP21A2 gene
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