摘要
地中海贫血的实验室诊断方法主要包括筛查法和基因检测技术两大类。前者以红细胞形态及理化特性为其诊断依据,包括血常规检测、红细胞形态学检测、红细胞渗透脆性实验、血红蛋白分析技术等;后者主要以PCR为基础而进行的各种基因检测技术,主要包括跨越断裂位点(gap-PCR)法、PCR结合反向点杂交法(PCR-RDB)、实时荧光定量PCR、基于实时PCR的溶解曲线分析技术、基因芯片、DNA序列测定等。本文综述近年来地中海贫血的实验室诊断方法,筛查法和基因诊断技术的联合应用,为地中海贫血的诊断提供参考。
Thalassemia laboratory diagnostic techniques include screening test and genetic test, the former diagnosis method is mainly based on the morphology of red blood cells and the physical and chemical properties, including routine analysis of blood, red blood cell morphology test, red blood cell permeability test, hemoglobin component analysis, etc. The latter is mainly based on various of molecular biology experiments developed on the basis of PCR, including gap- PCR, PCR-RDB, melting curve analysis, high resolution melting analysis, real-time PCR, gene chip and DNA sequencing, etc. This paper reviews the progress of laboratory diagnostic techniques on thalassemia, combination of comprehensive screening method with technique of genetic diagnosis, appropriately contributes to the diagnosis of thalassemia.
作者
付月
刘文君
FU Yue, LIU Wen-Jun(Department of Pediatrics, The Affiliated Hospital of Southwest Medical University, Luzhou 646000, Sichuan Province, Chin)
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2018年第2期631-636,共6页
Journal of Experimental Hematology
关键词
地中海贫血
筛查法
基因诊断
thalassemia
screening test
gene diagnosis
