Methods DNA sequencing analysis and restriction endonuclaese analysis were used to detect the mutation of glial fibrillary acidic protein (GFAP) gene in a patient with clinically diagnosed Alexander disease, in her parents and in 50 healthy controls.

• 方法应用聚合酶链反应-DNA直接测序方法对1例临床诊断为婴儿型亚历山大病患者胶质细胞原纤维酸性蛋白(glialfibrillaryacidicprotein,GFAP)基因进行突变分析,根据突变点序列设计错配引物,同时形成内切酶HpyCH4V酶切位点,对患儿父母及50名正常对照进行酶切分析。