摘要
β-贫血（β-地贫）是世界上最常见、对人类健康危害最严重的单基因遗传病之一。本文从临床实验室的角度，对β-地贫分子诊断技术的最新进展进行了综述，涉及反向斑点杂交、微测序、实时PCR以及无创产前诊断等技术的原理、特点和发展趋势等。
β-thalassemia is one of the most common monogenic genetic disorders in the world, and represents a major public health problem among humans. This review describes the latest technical development of molecular diagnosis of β-thalassemia from the perspective of clinical settings. Related techniques including reverse dot blot, minisequencing, real-time PCR, and non-invasive prenatal diagnosis, etc. are discussed regarding their principles, features and trends.
出处
《中华检验医学杂志》
CAS
CSCD
北大核心
2012年第5期390-393,共4页
Chinese Journal of Laboratory Medicine
关键词
Β地中海贫血
分子诊断
产前诊断
β-thalassemia
Molecular diagnosis
Prenatal diagnosis
