摘要
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.
出处
《中国实用儿科杂志》
CSCD
北大核心
2000年第4期219-220,共2页
Chinese Journal of Practical Pediatrics
基金
卫生部 !(96Q -0 40 )
国家教委 !(97-4 36 )
辽宁省国际合作项目! (9730 10 )的资助
关键词
脊髓性肌萎缩
产前诊断
基因诊断
Spinal muscular atrophy\ Survival motor neuron gene\ Prenatal diagnosis
