摘要
建立了微量测定芳基硫酸酯酶Ｂ活性的方法。对二例粘多糖贮积症Ⅵ型进行病例诊断，并对其中一个家系的高危孕妇于孕中期进行产前诊断，结果判断胎儿正常，婴儿出生后验证正常。
The method for microanalysis of arylsulphatase B was set up.The diagnosis of two cases mucopolysaccharidosis type Ⅵ (Maroteaux-Lamy syndrome) and prenatal diagnosis in one high risk pregnancy were reported in this paper.The arylsulphatase B activities of leukocytes from patients are below 10%of the mean of normal control. The fetus was diagnosed normal prenatally and confirmed after the birth of the bady.
出处
《中国优生与遗传杂志》
1995年第2期21-23,4,共4页
Chinese Journal of Birth Health & Heredity
基金
卫生部"八.五"课题基金
