摘要
目的探讨多色探针熔解曲线分析(MMCA)法检测湘潭地区葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症基因突变的性能,为临床诊断提供参考。方法纳入2017年1月至2020年9月于该院进行G6PD缺乏症筛查的90221例新生儿,以其中454例同时进行G6PD酶活性法检测和基因检测[MMCA法、外显子基因测序(Sanger测序)法]的G6PD缺乏症初筛阳性新生儿作为研究对象,以Sanger测序法的检测结果为“金标准”,对酶活性法和MMCA法进行方法学比较。结果酶活性法诊断男性新生儿G6PD缺乏症的灵敏度为97.6%,特异度为100.0%;诊断女性新生儿G6PD缺乏症的灵敏度为59.5%,特异度为100.0%。酶活性法与Sanger测序法诊断男性新生儿G6PD缺乏症的结果一致性较好(Kappa=0.974,P<0.05),诊断女性新生儿G6PD缺乏症的结果一致性一般(Kappa=0.676,P<0.05)。MMCA法诊断男性新生儿G6PD缺乏症的灵敏度为97.0%,特异度为100.0%;诊断女性新生儿G6PD缺乏症的灵敏度、特异度均为100.0%。MMCA法与Sanger测序法诊断男性新生儿G6PD缺乏症的结果一致性较好(Kappa=0.967,P<0.05),诊断女性新生儿G6PD缺乏症的结果完全吻合(Kappa=1.000,P<0.05)。结论与传统的酶活性法比较,MMCA法具有灵敏度、特异度高的优点,是一种快速、准确、适用于临床诊断G6PD缺乏症的方法。
Objective To explore the performance of multicolor probe melting curve analysis(MMCA)method in detecting glucose-6-phosphate dehydrogenase(G6PD)deficiency gene mutation in Xiangtan area,so as to provide reference for clinical diagnosis.Methods Included 90221 newborns who were screened for G6PD deficiency in this hospital from January 2017 to September 2020,among them,454 cases initially screened positive newborns with G6PD deficiency undergoing G6PD enzyme activity method detection and genetic detection[MMCA method,exon gene sequencing(Sanger sequencing)method]at the same time were used as the research object.Took the detection result of Sanger sequencing method as the"gold standard",the methodological comparison of enzyme activity method and MMCA method was carried out.Results The sensitivity and specificity of enzyme activity method in the diagnosis of G6PD deficiency in male newborns were 97.6%and 100.0%,the sensitivity and specificity in the diagnosis of G6PD deficiency in female newborns were 59.5%and 100.0%.Enzyme activity method and Sanger sequencing method showed good consistency in the diagnosis of G6PD deficiency in male newborns(Kappa=0.974,P<0.05),and generally consistency in the diagnosis of G6PD deficiency in female newborns(Kappa=0.676,P<0.05).The sensitivity and specificity of MMCA method in the diagnosis of G6PD deficiency in male newborns were 97.0%and 100.0%,the sensitivity and specificity in the diagnosis of G6PD deficiency in female newborns were both 100.0%.MMCA method and Sanger sequencing method showed good consistency in the diagnosis of G6PD deficiency in male newborns(Kappa=0.967,P<0.05),and showed completely consistency in the diagnosis of G6PD deficiency in female newborns(Kappa=1.000,P<0.05).Conclusion Compare with the traditional enzyme activity method,the MMCA method has the advantages of high sensitivity and specificity,and which is a fast,accurate,and suitable method for clinical diagnosis of G6PD deficiency.
作者
李晨辉
王淑媛
袁海斌
殷伟
刘春梅
LI Chenhui;WANG Shuyuan;YUAN Haibin;YIN Wei;LIU Chunmei(Department of Eugenic Inheritance,Xiangtan Maternal and Child Health Hospital,Xiangtan,Hunan 411101,China)
出处
《检验医学与临床》
CAS
2021年第19期2795-2798,2802,共5页
Laboratory Medicine and Clinic
基金
湖南省自然科学基金项目(2018JJ6076)。
关键词
多色探针熔解曲线分析法
葡萄糖-6-磷酸脱氢酶缺乏症
基因突变
酶活性
multicolor probe melting curve analysis method
glucose-6-phosphate dehydrogenase deficiency
gene mutation
enzyme activity
