摘要
目的 对一婴儿型脊肌萎缩症家系进行产前基因诊断。方法 用 PCR-酶切技术对一家系孕 1 7w的风险胎儿进行 SMN基因外显子 7缺失的检测。结果 此风险胎儿无 SMN基因外显子 7缺失可继续妊娠。结论 婴儿型脊肌萎缩症可通过产前基因诊断避免患儿出生。
Objective To carry out prenatal gene diagnosis in a pedigree of infantile spinal muscular atrophy (SMA).Methods Exon 7 deletion of SMN gene was detected in a 17w SMA risk fetus of one family using PCR Enzyme cut.Results The SMA risk fetus had no exon 7 deletion of SMN gene.Thus pregnancy shoud be continued.Conclusion Prenatal gene diagnosis may be the best measure to prevent the birth of SMA child.
关键词
婴儿型脊肌萎缩症
SMN基因
产前基因诊断
spinal muscular atrophy,infantile
survival motor neuron(SMN) gene
PCR
prenatal gene diagnosis
