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通过在0℃测定绒毛匀浆的芳基硫酸酯酶A(ASA)可检测患异染性脑白质营养不良症(MLD)风险的胎儿。从一名第四次怀孕,妊娠9.5周的妇女获取绒毛标本,她以前分娩过MLD的患儿,因其白细胞内ASA活性低,患儿双亲酶水平呈杂合状态。从另一名第三次怀孕,妊娠10周的妇女获取绒毛标本,她先前出生过MLD的患儿,其白细胞及成纤维细胞内ASA活性缺陷。在妊娠16周作了羊膜穿刺,胎儿双亲酶活性呈现出典型的杂合状态。以往的研究表明,常用的比色测定法因受绒毛中高活性的芳基硫酸酯酶C的干扰,
Fetus with risk of Alzheimer’s disease (MLD) can be detected by assaying chorionic homogenisuloside A (ASA) at 0 ° C. From a fourth pregnancy, 9.5 weeks pregnant women to obtain villus specimens, her previous MLD delivery of children, because of its low activity of leukocyte ASA, children with parental enzyme levels were heterozygous state. Villus specimens were obtained from another third pregnant, 10-gestation woman who had a previous loss of ASA activity in white blood cells and fibroblasts in children with MLD. Amniocentesis was performed at 16 weeks of gestation and the fetal parental enzyme activity showed a typical heterozygous state. Previous studies have shown that commonly used colorimetric assay due to the villus in the activity of aryl sulfatase C interference,