载脂蛋白E基因三种分型检测方法临床效能对比评价

doi:10.3969/j.issn.1673-8640.2013.09.013

检验医学 ›› 2013, Vol. 28 ›› Issue (9): 789-792.DOI: 10.3969/j.issn.1673-8640.2013.09.013

载脂蛋白E基因三种分型检测方法临床效能对比评价

熊燏,钱士匀

海南医学院热带医学与检验医学院,海南海口 571101

收稿日期:2013-02-21 修回日期:2013-09-25 出版日期:2013-09-15 发布日期:2013-09-25
通讯作者: 钱士匀,联系电话:0898-66890322。
作者简介:熊燏,女,1980年生,硕士,讲师,从事脂蛋白与动脉粥样硬化发病机制与相关疾病的生化诊断和临床遗传病基因诊断研究。

A comparative study of three determination methods on the effect of apoE genotyping

XIONG Yu,QIAN Shiyun.

School of Tropical and Laboratory Medicine, Hainan Medical University, Hainan Haikou 571101, China

Received:2013-02-21 Revised:2013-09-25 Online:2013-09-15 Published:2013-09-25

摘要/Abstract

摘要：

目的对3种载脂蛋白E(apo E)基因型分析的方法:多重特异性扩增突变系统快速分型法(Multi-ARMS PCR)、聚合酶链反应-限制性核酸内切酶片段长度多态性(PCR-RFLP)、聚合酶链反应-单链构象多态性(PCR-SSCP)进行评价,试图对apo E基因分型的方法进行对比评价。方法对518名健康调查者分别采用Multi-ARMS PCR、PCR-RFLP、PCR-SSCP等方法进行apo E基因型的分析,并最后对所有标本采用核酸测序的方法进行分型确证。结果在核酸序列分析结果一致性比较上,3种apo E基因分型的方法有所不同(Multi-ARMS PCR Kappa值为0.964、PCR-RFLP为0.991、PCR-SSCP为0.913;Kappa越接近1,提示一致性越好)。结论 PCR-RFLP在3种apo E基因型分析方法中最可靠。

关键词: 载脂蛋白E, 基因分型, 检测方法, 评价, 核酸序列分析

Abstract:

Objective To evaluate the 3 determination methods [multiplex amplification refractory mutation system polymerase chain reaction (Multi-ARMS PCR), polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP)] on the effect of apolipoprotein E (apo E) genotyping. Methods apo E genotypes of 518 healthy subjects were analyzed by Multi-ARMS PCR, PCR-RFLP and PCR-SSCP respectively, and the results were confirmed by DNA sequencing. Results The results of the 3 determination methods were not entirely consistent with the results of DNA sequencing (Multi-ARMS PCR Kappa=0.964, PCR-RFLP Kappa=0.991, PCR-SSCP Kappa=0.913, and Kappa was closer to 1, the consistency was better). Conclusions Among the 3 determination methods, PCR-RFLP is the most reliable one for apoE genotyping.

Key words: Apolipoprotein E, Genotyping, Determination method, Evaluation, DNA sequencing

中图分类号:

Q503

熊燏,钱士匀. 载脂蛋白E基因三种分型检测方法临床效能对比评价[J]. 检验医学, 2013, 28(9): 789-792.

XIONG Yu,QIAN Shiyun.. A comparative study of three determination methods on the effect of apoE genotyping[J]. , 2013, 28(9): 789-792.

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载脂蛋白E基因三种分型检测方法临床效能对比评价

A comparative study of three determination methods on the effect of apoE genotyping

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