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  • Title: Detection of alpha-thalassemia in China by using multiplex ligation-dependent probe amplification.
    Author: Liu JZ, Han H, Schouten JP, Wang LR, Fan XP, Duarte HB, Zhu CJ, Cai R, Xiao B, Wang QT.
    Journal: Hemoglobin; 2008; 32(6):561-71. PubMed ID: 19065334.
    Abstract:
    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.
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