脊髓性肌萎缩的基因诊断和产前基因诊断研究

Gene diagnosis and prenatal gene diagnosis of spinal muscular atrophy

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。

Objective To study the feasibility of gene diagnosis and prenatal gene diagnosis in patients with spinal muscular atrophy(SMA).Methods Multiple polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)was used to dectect the deletions of exogenote 7 of survival motor neuron(SMN)gene in 31 SMA patients.Prenatal diagnosis of SMA was performed in 2 families.Results Homozygous deletion of SMN exogenote 7 was identified in 96\^8%(30/31)of patients with SMA.No deletion of SMN exogenote 7 was found in two cases for prenatal diagnosis.Conclusion This DNA analysis of SMN gene may be useful for gene diagnosis and prenatal gene diagnosis of SMA.