Chinese medical journal · 2005
Prenatal diagnosis of spinal muscular atrophy in Chinese by genetic analysis of fetal cells.
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Wu Ting, Ding Xin-sheng, Li Wen-lei, Yao Juan, Deng Xiao-xuan
Аннотация
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.
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.