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  • Title: Prenatal diagnosis of spinal muscular atrophy in Chinese by genetic analysis of fetal cells.
    Author: Wu T, Ding XS, Li WL, Yao J, Deng XX.
    Journal: Chin Med J (Engl); 2005 Aug 05; 118(15):1274-7. PubMed ID: 16117881.
    Abstract:
    BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of anterior horn cells of the spinal cord. The survival motor neuron gene is SMA-determining gene deleted in approximately 95% of SMA patients. This study was undertaken to predict prenatal SMA efficiently and rapidly in families with previously affected child. METHODS: Prenatal diagnosis was made in 8 fetuses with a family history of SMA. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used for the detection of the survival motor neuron gene. RESULTS: The survival motor neuron gene was not found in 6 fetuses, ruling out the diagnosis of SMA. Two fetuses were detected positive and the pregnancies were terminated. CONCLUSION: Our method is effective and convenient in prenatal diagnosis of SMA.
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