Molecular diagnosis of β-thalassemia
10.3760/cma.j.issn.1009-9158.2012.05.002
- VernacularTitle:β-地中海贫血分子诊断进展
- Author:
Qingge LI
;
Qiuying HUANG
- Publication Type:Journal Article
- Keywords:
β-thalassemia;
Molecular diagnosis;
Prenatal diagnosis
- From:
Chinese Journal of Laboratory Medicine
2012;35(5):390-393
- CountryChina
- Language:Chinese
-
Abstract:
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 descrihes 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.
