【摘要】 <正> 溶酶体贮积症是一组遗传性疾病,是由于基因突变导致溶酶体的有关酸性水解酶缺陷,以致其天然底物在溶酶体中贮积而造成的。绝大多数为常染色体隐性遗传,无有效治疗方法。因此对高危孕妇进行产前诊断,是防止患儿出生的唯一有效措施。我们利用羊水细胞测酶活性在国内首次进行产前诊断成功两例。 材料与方法 用已建立的酶活性测定法,对先证者作出确诊。两例先证者,一例为黑矇性痴呆(Tay-Sachs氏病,简称TSD),一例为粘脂贮积症Ⅲ型(Mucolipidosis Ⅲ,简称ML Ⅲ),他们的母亲再次妊娠时,更多还原

【Abstract】 Prenatal diagnoses were performed in two mothers with fetuses at risk for Tay-Sachs disease and mucolipidosis type Ⅲ. The activities of relevant lysosomal hydrolases in cultured amniotic cells were determined. Both were diagnosed as unaffacted and diagnosis comfirmed with enzymatic assays on serum or cord blood serum of the newborns.更多还原