Jia Xing-yuan, Wei Xiao-jing, Tang Ning, Wang Li-rong, Han Han, Zheng Mei-ling, Cai Ren, Xiao Bai, Liu Jing-zhong
Capital Medical University, Beijing, People's Republic of China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Dec;28(6):670-4. doi: 10.3760/cma.j.issn.1003-9406.2011.06.016.
To establish a comprehensive and simple assay using denaturing high performance liquid chromatography (DHPLC) for the diagnosis of most common mutations and deletions of α-thalassemia gene in Southeast Asians and Southern Chinese.
This assay has included a duplex polymerase chain reaction (PCR) followed by DHPLC analysis. An improved PCR was also performed followed by DHPLC analysis. With this assay, a blinded study of 160 samples was screened for three common mutations and three common deletions.
The duplex PCR-DHPLC combined with the improved PCR-DHPLC analysis has detected all mutations and the wild-type allele. The results were consistent with those by the original methods.
This molecular assay may be used for the diagnosis of α-thalassemia patients from this geographical region. The method is accurate, rapid, semi-automatic and cost-effective, which makes it suitable for large-scale screening.
建立一种综合且简便的变性高效液相色谱法（DHPLC）检测方法，用于诊断东南亚人和中国南方人中最常见的α-地中海贫血基因突变和缺失。
该检测方法包括双重聚合酶链反应（PCR），随后进行DHPLC分析。还进行了改进的PCR，随后进行DHPLC分析。使用此检测方法，对160份样本进行盲法研究，筛查三种常见突变和三种常见缺失。
双重PCR-DHPLC与改进的PCR-DHPLC分析相结合，检测到了所有突变和野生型等位基因。结果与原方法一致。
这种分子检测方法可用于诊断该地理区域的α-地中海贫血患者。该方法准确、快速、半自动且具有成本效益，适用于大规模筛查。
