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目的 探讨中国人脊髓性肌萎缩 (SMA)基因诊断和产前基因诊断的可行性。方法 应用复合聚合酶链反应 -限制性片段长度多态 (PCR -RFLP)方法对 31例SMA患儿进行神经元存活基因 (SMN)第 7外显子缺失分析 ,并对 2例有SMA阳性家族史的家系进行了产前基因诊断。结果 96 8% (30 / 31)SMA患儿携有SMN基因第 7外显子缺失。 2例产前基因诊断的病例均无SMN基因第 7外显子缺失。结论 SMN基因缺失检测技术可用于SMA患儿的基因诊断和产前基因诊断
Objective To investigate the feasibility of gene diagnosis and prenatal diagnosis in Chinese people with spinal muscular atrophy (SMA). Methods The deletion of exon 7 of neuronal survivin gene (SMN) in 31 cases of SMA patients was analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Two SMA positive cases History of the pedigree for prenatal genetic diagnosis. Results 96 8% (30 of 31) SMA children with SMN gene exon 7 deletion. No cases of prenatal gene diagnosis of SMN gene exon 7. Conclusion The detection of SMN gene deletion can be used in gene diagnosis and prenatal diagnosis of SMA in children