Liu Jing-Zhong, Han Han, Schouten Jan P, Wang Li-Rong, Fan Xin-Ping, Duarte Helena B, Zhu Chun-Jiang, Cai Ren, Xiao Bai, Wang Qing-Tao
Basic Medical Research Center, Beijing Chaoyang Hospital, Capital Medical University, Beijing, China.
Hemoglobin. 2008;32(6):561-71. doi: 10.1080/03630260802508111.
The multiplex ligation-dependent probe amplification (MLPA) method was used to analyze 118 DNA samples from 90 alpha-thalassemia (alpha-thal) patients and 28 normal persons from Southern China, where the main causes of alpha-thal are three large deletions (-alpha3.7, -alpha4.2, and --SEA) and two point mutations in the alpha-globin gene cluster on chromosome 16. The results, detected by the P140B HBA kit, were in complete concordance with the results detected by multiplex polmymerase chain reaction (m-PCR) and real-time PCR. The advantages and limitations of the techniques are discussed. We concluded that MLPA was a rapid and reliable method to determine the cause of both deletional and nondeletional alpha-thal in China.
采用多重连接依赖探针扩增（MLPA）方法分析了来自中国南方90例α地中海贫血（α-地贫）患者和28名正常人的118份DNA样本，α-地贫的主要病因是16号染色体上α-珠蛋白基因簇的三个大片段缺失（-α3.7、-α4.2和--SEA）以及两个点突变。用P140B HBA试剂盒检测的结果与多重聚合酶链反应（m-PCR）和实时PCR检测的结果完全一致。讨论了这些技术的优缺点。我们得出结论，MLPA是确定中国缺失型和非缺失型α-地贫病因的一种快速可靠的方法。
