论文部分内容阅读
遗传咨询和产前诊断工作,对于提倡优生、降低遗传病发生率极为重要。我国产前诊断工作始于1977年。去年,我们进行了经培养的正常羊水细胞中三种鞘脂降解所需酶(β-半乳糖苷醇,β-氨基己糖苷酶及芳基硫酸酯酶A)的活性测定,为产前诊断鞘脂代谢疾病中较常见的G_(m1)神经节苷脂贮积症,黑矇性
Genetic counseling and prenatal diagnosis work is extremely important for promoting eugenics and reducing the incidence of genetic diseases. Prenatal diagnosis in China began in 1977. Last year, we performed an activity assay for the enzymes required for the degradation of three sphingolipids (β-galactoside, β-hexosaminidase and aryl sulfatase A) in cultured normal amniotic cells for prenatal diagnosis Sphingolipid metabolic disease more common G_ (m1) gangliosideosis, amaurosis