表皮松解性表皮角化病(EHK)是一种先天性皮肤病,出生时婴儿周身红斑伴大量水疱,以后数周发展为表皮角化病,它是由角蛋白1和10(K1和K10)突变引起的常染色体显性遗传性皮肤病。 EHK的产前诊断已经胎儿皮肤活检和羊水细胞超微结构分析获得成功,而绒毛标本测量基因序列亦同样取得结果。超微结构分析做出EHK产前诊断的最早孕龄为19周,绒毛标本直接测基因序列于孕8周即可得出。本文于孕15周妇女羊膜细胞中分离脱氧核糖核酸(DNA),通过直接测基因序列对胎儿进行EHK的产前筛选。 用10 mM Tris-HCI(pH7.5)、0.32M蔗 Epidermolysis epidermis keratosis (EHK) is a congenital dermatosis with erythema at birth in infants with large blisters that develop for weeks after epidermal keratosis, which is composed of keratin 1 and 10 (K1 and K10 ) Mutations caused by autosomal dominant skin disease. Prenatal diagnosis of EHK has been successful in fetal skin biopsies and amniotic fluid ultrastructure analysis, and villus samples also measure the gene sequence to obtain the same results. The earliest gestational age for prenatal diagnosis of EHK was 19 weeks by ultrastructural analysis, and the direct measurement of the gene sequence in the villus specimens could be obtained at 8 weeks’ gestation. In this study, DNA was isolated from amniotic cells of women at 15 weeks of gestation, and prenatal screening of the fetus was performed on the fetus by measuring the gene sequence directly. Use 10 mM Tris-HCl (pH 7.5), 0.32 M cane