【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。更多还原

【Abstract】 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.更多还原