摘要
高雪氏病是神经鞘脂贮积症中最为常见的1种。它是由于溶酶体中葡萄糖脑苷脂酶或称酸性β-葡萄糖苷酶缺陷所致。作者对5例少年型高雪氏病患儿(3～8岁)及其父母进行了白细胞中的酸性β-葡萄糖苷酶活性测定及1例高雪氏病高危妊娠的产前诊断。高雪氏病患儿白细胞中的酶活性仅为正常均值的20%,高危胎儿的酸性β-葡萄糖苷酶明显缺乏。
Gaucher's disease is most common in sphingolipidoses. It is caused by a deficiency of glucocerbrosidase or lysosomal acid β-glucosidase. The diagnosis of 5 cases and prenatal diagnosis in one high risk pregnancy were reported in this paper. Acid β-glucosidase activities of leukocytes from patients with Gaucher's disease are about 20% of the mean of normal control. An affected fetus was detected prenatally by determining acid β-glucosidase activity of amniotic fluid cells.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1992年第1期2-3,共2页
Chinese Journal of Medical Genetics
关键词
β葡糖苷酶
产前诊断
高雪氏病
Gaucher's disease Beta-glucosidases Prenatal diagnosis
