本文着重介绍对一些遗传性皮肤病的产前基因诊断方法及近来的发展。包括 :14种获取胎儿 DNA的方法 :羊膜腔穿刺、胎盘绒毛膜活检、孕妇外周血分离胎儿细胞 ,植入前裂球细胞取材 ;2基因分析的主要方法 :已知突变位点的可采用DNA直接测序法 ,等位基因特异性寡核苷酸探针法 (ASO) ,限制性内切酶片段长度多态性 (RFL Ps)等方法 ,对于突变位点未知者则进行家族单体性连锁分析 This article focuses on the methods and recent developments of prenatal genetic diagnosis of some hereditary skin disorders. Including: 14 kinds of methods to obtain fetal DNA: amniocentesis, placental chorionic villus, fetus cells from peripheral blood of pregnant women, pre-implantation blastomere taken; 2 The main method of gene analysis: Known mutation sites can be used DNA Direct sequencing, allele specific oligonucleotide probe method (ASO), restriction fragment length polymorphism (RFL Ps) and other methods, for the unknown mutation site family monomeric linkage analysis