Chinese medical journal · 2003
Prenatal diagnosis of Werdnig-Hoffmann disease in China.
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Feng Jianhua, Toshiyuki Yamamoto
Аннотация
OBJECTIVE: To establish a means for prenatal prediction of spinal muscular atrophy (SMA) through survival motor neuron (SMN) gene deletion analysis and genetic counseling in families with a child affected with SMA.
METHODS: Genetic analysis for prenatal prediction of Werdnig-Hoffmann disease was performed in a at risk Chinese family by polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) in SMN gene exons 7 and 8.
RESULTS: The pregnancy was positive for the homozygous deletion of the SMN gene, thus the fetus was diagnosed as being affected and the pregnancy was terminated.
CONCLUSION: This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease.
METHODS: Genetic analysis for prenatal prediction of Werdnig-Hoffmann disease was performed in a at risk Chinese family by polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) in SMN gene exons 7 and 8.
RESULTS: The pregnancy was positive for the homozygous deletion of the SMN gene, thus the fetus was diagnosed as being affected and the pregnancy was terminated.
CONCLUSION: This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease.