摘要
目的探讨口腔黏膜脱落细胞用于稳定型心绞痛硝酸甘油治疗患者线粒体乙醛脱氢酶2(ALDH2)*2基因突变快速检测的准确率和安全性。方法收集稳定型心绞痛患者346例,同时采集患者口腔黏膜脱落细胞及全血标本,应用荧光探针法检测口腔黏膜脱落细胞标本ALDH2*2基因型,应用对比试剂检测全血标本ALDH2*2基因型,将两种方法检测结果进行对比,结果不相符的标本使用Sanger测序法检测全血标本ALDH2*2基因型,判定检测结果;对比两种方法检测结果和检测过程中的不良事件发生率。结果346例稳定型心绞痛患者均成功采集口腔黏膜脱落细胞标本和全血标本,采样过程均无明显不良事件发生。荧光探针法和对比试剂检测ALDH2*2基因总突变率分别为33.82%(117/346)及34.68%(120/346),两种方法检测出的ALDH2*2总基因突变率比较差异无统计学意义(P>0.05)。两种方法共3例检测结果不一致,采用Sanger法测序进行复核显示,测序复核结果均与口腔黏膜脱落细胞荧光探针法检测结果一致。两种方法检测结果的ALDH2基因GG型符合率为100.00%(95%CI 98.33%~100.00%),GA型符合率为97.20%(95%CI92.08%~99.04%),AA型符合率为100.00%(95%CI77.19%~100.00%),ALDH2基因型总符合率为99.13%(95%CI 97.48%~99.70%)。一致性分析结果显示,两种方法检测结果的ALDH2基因AA型Kappa值为1.00,GA型Kappa值为0.97,GG型Kappa值为0.98,ALDH2基因型总Kappa值为0.98。结论口腔黏膜脱落细胞用于稳定型心绞痛硝酸甘油治疗患者ALDH2*2基因突变快速检测的准确率及安全性良好,可有效简化标本提取过程,提高患者依从性。
Objective To explore the accuracy and safety of oral mucosal exfoliated cells for the rapid detection of mitochondrial acetaldehyde dehydrogenase 2(ALDH 2)*2 gene mutation in stable angina pectoris patients treated with nitroglycerin.Methods We selected 346 patients with stable angina pectoris,collected their oral mucosal exfoliated cells and whole blood samples,detected ALDH 2*2 genotype in the oral mucosal exfoliated cells by fluorescent probe method,tested ALDH 2*2 genotype in the whole blood samples by contrast reagent,and compared the test results of the two methods for ALDH 2*2 genotype.Samples with inconsistent results were subjected to Sanger sequencing to detect the ALDH2*2 genotype in whole blood samples and we determined the test results.Subsequently,we compared the detection results of the two methods and the incidence of adverse events during the detection process.Results Oral mucosal exfoliated cell samples and whole blood samples were successfully collected from all of the 346 patients with stable angina pectoris,and no significant adverse events occurred during the sampling process.The total mutation rates of ALDH 2*2 gene detected by fluorescent probe and contrast reagent were 33.82%(117/346)and 34.68%(120/346),respectively.There was no significant difference in the total ALDH 2*2 gene mutation rate between the two detection methods(P>0.05).The results of 3 cases of the two methods were inconsistent,and the sequencing results were consistent with the fluorescence probe method of exfoliated cells from oral mucosa.The coincidence rate of the GG genotype of the ALDH2 gene detected by two methods was 100.00%(95%CI 98.33%~100.00%),the GA genotype coincidence rate was 97.20%(95%CI 92.08%~99.04%),the AA genotype coincidence rate was 100.00%(95%CI 77.19%~100.00%),and the total coincidence rate of the ALDH2 genotype was 99.13%(95%CI 97.48%~99.70%).The consistency analysis showed that the ALDH 2 gene had an AA Kappa value of 1.00,GA type Kappa value of 0.97,GG type Kappa value of 0.98 and a total Kappa val
作者
高必贞
余将丽
党书毅
许海军
陈佳娟
熊健
董晓
GAO Bizhen;YU Jiangli;DANG Shuyi;XU Haijun;CHEN Jiajuan;XIONG Jian;DONG Xiao(Treatment Center of Cardiovascular Disease,Shiyan Taihe Hospital(The Affiliated Hospital of Hubei University of Medicine),Shiyan 442000,China)
出处
《山东医药》
CAS
2023年第17期29-32,37,共5页
Shandong Medical Journal
基金
湖北省自然科学基金项目(2022CFB436)。
关键词
口腔黏膜脱落细胞
线粒体乙醛脱氢酶2
基因突变
硝酸甘油
稳定型心绞痛
exfoliated cells of oral mucosa
mitochondrial acetaldehyde dehydrogenase 2
gene mutation
glyceryl trinitrate
stable angina pectoris
