Liu Ying-Na, Li Ru, Zhou Jian-Ying, Xie Xing-Mei, Li Jian, Liao Can, Li Dong-Zhi
Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Women and Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, PR China.
Clin Chem Lab Med. 2011 Oct 25;50(2):273-7. doi: 10.1515/CCLM.2011.759.
α-Thalassemia is one of the most commonly inherited single-gene disorders in southern China. It is important to identify non-deletional α-thalassemia in areas where α-thalassemia is prevalent, since non-deletional HbH disease (--/α(T)α or --/αα(T)) is caused by the interaction of a non-deletional α-thalassemia with α-thalassemia-1 trait (--/αα). In this study, we developed an optimized molecular protocol for screening for α-globin gene mutations and validated the feasibility of using it as a rapid detection method.
An approach based on high-resolution melting (HRM) analysis was used. A total of 74 samples, including 54 abnormal α-chain samples and 20 control samples, were tested.
All of the 54 samples with point mutations at the exons 1, 2 or 3 of the α-globin genes, including 33 non-deletional α-thalassemia, were successfully detected.
HRM has the potential to become an efficient, rapid screening method for non-deletional α-thalassemia.
α地中海贫血是中国南方最常见的单基因遗传病之一。在α地中海贫血流行地区识别非缺失型α地中海贫血很重要，因为非缺失型血红蛋白H病（--/α(T)α或--/αα(T)）是由非缺失型α地中海贫血与α地中海贫血1特征（--/αα）相互作用引起的。在本研究中，我们开发了一种优化的分子方案用于筛查α珠蛋白基因突变，并验证了将其用作快速检测方法的可行性。
采用基于高分辨率熔解（HRM）分析的方法。共检测了74个样本，包括54个异常α链样本和20个对照样本。
成功检测出所有54个在α珠蛋白基因外显子1、2或3处存在点突变的样本，其中包括33个非缺失型α地中海贫血样本。
高分辨率熔解分析有潜力成为一种高效、快速的非缺失型α地中海贫血筛查方法。
