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  • Title: [Study on genetic diagnosis and prenatal diagnosis of alpha-thalassemia].
    Author: Liu JZ, Wang LR, Huang LJ, Xiao B, Zhou Y.
    Journal: Zhonghua Xue Ye Xue Za Zhi; 2005 Feb; 26(2):103-5. PubMed ID: 15921628.
    Abstract:
    OBJECTIVE: To develop a single-tube multiplex polymerase chain reaction (mPCR) technique to detect three common deletional alpha-thalassemias (alpha-Thal) in Chinese, and to perform genetic diagnosis and prenatal diagnosis for an alpha-Thal family from Hebei province, China. METHODS: Fourty-two blood samples including samples from one alpha-Thal family from Hebei province were assayed. The mPCR containing 7 primers, gel electrophoresis and DNA sequencing were used for the genetic diagnosis and prenatal diagnosis. RESULTS: The gene types of the fourty-two DNA samples analyzed by the mPCR-gel electrophoresis technique were in accordance with the results by Southern blot and three separate PCR techniques. A HbH child and a fetus of the alpha-Thal family were diagnosed as--(SEA)/alpha(cs)alpha and alpha alpha/alpha alpha respectively by using the mPCR and DNA sequencing. The result of postnatal analysis of the cord blood was consistent with the prenatal result (alpha alpha/alpha alpha). CONCLUSION: The developed mPCR technique can be used for genetic diagnosis and prenatal diagnosis of the 3 deletional alpha-Thal in Chinese.
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