地中海贫血的实验室分子诊断技术研究进展  

Advances of laboratory molecular diagnostic techniques for thalassemia

作　　者：李继慧[1] 覃运荣[1] 梁毅[1] LI Jihui;QIN Yunrong;LIANG Yi(Department of Clinical Laboratory, Guangxi Yulin Maternal and Child Health Hospital, Yulin, Guangxi, China, 53700)

机构地区：[1]广西玉林市妇幼保健院检验科,广西玉林537000

出　　处：《分子诊断与治疗杂志》2018年第3期202-205,共4页Journal of Molecular Diagnostics and Therapy

摘　　要：地中海贫血是最常见的血红蛋白病之一,具有遗传性,其主要类型为α-及β-型。目前实验室针对α-、β-型地中海贫血的分子学诊断方法主要是基于PCR法的多种检测技术,此外还有多重连接探针扩增技术、基因芯片技术、高通量测序技术等,各种技术均有其优缺点,合理选择检测方法有助于提高地贫的检出率,还能够引导患者及时进行产前诊断,为降低人口出生缺陷和提高人口素质提供有效的临床依据。本文就目前应用于地中海贫血的多种实验室分子诊断技术作一综述。Thalassemia is one of the most common hemoglobinopathies,which is inherited. The main types of thalassemia are α-thalassemia and β-thalassemia. The laboratory molecular diagnosis methods for α-,β-thalassemia are mainly based on the PCR method. In addition,multiplex ligation dependent probe amplification,gene chip technology and high-throughput sequencing technology are also used to detect the thalassemia,which all have their own advantages and disadvantages. The rational selection of detection methods can help to improve the detection rate of thalassemia,and guide the patients for prenatal diagnosis in a timely manner,which would provide effective clinical basis for reducing birth defects and improving the quality of the population. In this review,a variety of laboratory molecular diagnostic techniques applied to thalassemia will be summarized and discussed.

关 键 词：地中海贫血 分子诊断技术 Α-地中海贫血 Β-地中海贫血 

分 类 号：R440[医药卫生—诊断学] R556.61[医药卫生—临床医学]