Hammersen G, Levy H L, Frigoletto F, Mandell R
Clin Chim Acta. 1975 May 1;60(3):281-4. doi: 10.1016/0009-8981(75)90068-6.
Galactose-1-phosphate uridyl transferase, the enzyme deficient in galactosemia, is demonstrated to be present in erythrocytes from fetuses of 12--30 weeks gestation. The specific activity and starch gel electrophoretic pattern of this enzyme in fetal erythrocytes is virtually identical to that found in erythrocytes postnatally. This enzyme was also studied in cultured fibroblasts from skin and amniotic cells and found to have similar specific activity and identical electrophoretic mobility in tissues from both sources. There does not appear to be a fetal isozyme for galactose-1-phosphate uridyl transferase in either erythrocytes or cultured fibroblasts. Thus, with fetal erythrocytes obtained by fetoscopy, it is likely that prenatal diagnosis of galactosemia can be rapidly and reliably accomplished.
半乳糖血症中缺乏的酶——1-磷酸半乳糖尿苷转移酶，在妊娠12至30周胎儿的红细胞中被证实存在。该酶在胎儿红细胞中的比活性和淀粉凝胶电泳图谱与出生后红细胞中发现的几乎相同。还对来自皮肤和羊膜细胞的培养成纤维细胞中的这种酶进行了研究，发现其在这两种来源的组织中具有相似的比活性和相同的电泳迁移率。在红细胞或培养的成纤维细胞中似乎不存在1-磷酸半乳糖尿苷转移酶的胎儿同工酶。因此，通过胎儿镜检查获得胎儿红细胞，很可能能够快速、可靠地完成半乳糖血症的产前诊断。
