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作者利用5q13多态连锁分析进行了Ⅰ型脊肌肉萎缩症(SMA)的产前诊断。以我们的经验,一旦SMA诊断明确,就应终止妊娠。所以为了进行SMA的快速产前诊断,最近,我们选择了一种以羊水细胞和绒毛膜绒毛DNA为模板的PCR法。第一个病例是一位1岁的女婴,在7个月时其父母发现“软弱、无力”,通过EMG和肌肉活俭诊断为Ⅰ型SMA。其母亲在妊娠16周时要求产前诊断,次日进行了羊膜穿刺术,抽15ml羊水用于细胞培养和提取DNA,另取9 ml作直接法5q13微小卫星CA重复基因分型,通过不同途径为PCR做准备。最有效的方法是Chelex(Bio-Rad)
The authors used the 5q13 polymorphic linkage analysis to conduct prenatal diagnosis of type I vertebra muscular dystrophy (SMA). In our experience, pregnancy should be terminated once the diagnosis of SMA is clear. So in order to make rapid prenatal diagnosis of SMA, we recently chose a PCR method that uses amniotic fluid cells and chorionic villus DNA as a template. The first case was a 1-year-old baby whose parents found “weakness, weakness” at 7 months and were diagnosed as type I SMA by EMG and muscle activation. Their mothers asked for prenatal diagnosis at 16 weeks of gestation, amniocentesis was performed the next day, 15ml of amniotic fluid was drawn for cell culture and DNA was extracted, another 9ml was used for direct genotyping of 5q13 microsatellite CA with direct method, Prepare for PCR. The most effective method is Chelex (Bio-Rad)