【摘要】 为探索组织化学方法用于孕早期产前诊断,本文研究了孕龄6—9周绒毛中,下列20种与先天性代谢缺陷有关的酶,并根据组化反应的强度,进行了分级。(1)β-葡萄糖苷酸酶;(2)β-半乳糖苷酶;(3)芳基硫酸酯酶;(4)β-N-乙酰氨基葡萄糖苷酶;(5)3β-羟基类固醇脱氢酶;(6)NADH脱氢酶;(7)腺苷三磷酸酶;(8)硷性磷酸酶;(9)酸性磷酸酶;(10)肌酸磷酸激酶;(11)谷氨酸脱氢酶;(12)醛缩酶;(13)木糖醇脱氢酶;(14)醇脱氢酶;(15)黄嘌呤氧化酶;(16)过氧化氢酶;(17)鸟氨酸氨基甲酰转移酶;(18)脂酶(19)胆硷酯酶;(20)γ-谷氨酰转肽酶。组化反应结果表明,后6种酶呈阴性。由于前14种酶均呈阳性反应,很可能用于因同名酶缺乏而引起的先天性代谢病的产前诊断。实验证明,组化法较生化法有绒毛用量少、不存在母体细胞污染问题,以及方法简单、快速等优点。更多还原

【Abstract】 To try to find out the possible use of histochemistry in the prenatal diagnosis in first trimester of pregnancy, 20 kinds of enzymes in chorionic villi from 6th to 9th week of gestation which are related to inborn errors of metabolism were investigated and graded according to their histochemical reactive intensity; the enzymes listed below: (1). β-glucuronidase, (2). β-galactosidase, (3). arylsulfatase, (4). β-N-acetylglucosaminidase, (5). 3β-hydroxysteroid dehydrogenase, (6). NADH dehydrogenase, (7). adenosine triphosphatase, (8). alkaline phosphatase,(9). acid phosphatase, (10). creatine phosphokinase, (11). glutamic dehydrogenase, (12). aldolase, (13). xylitol dehydrogenase, (14). alcohol dehydrogenase, (15). xanthine oxidase, (16). catalase, (17). ornithine carbamoyl transferase, (18). lipase, (19). cholinesterase, (20). γ-glutamyl transpeptidase. The experimental results show that the last 6 kinds of enzymes present negative reactions. Since the his- tochemical reactions of the first 14 kinds of enzymes are positive, it is possible that they can be used for the prenatal diagnosis of inborn errors of metabolism caused by dificiency of corresponding enzymes. The results also show that compared with biochemical method, histochemical method has the advantages of requiring smaller amount of chorionic villi, being without contamination by maternal cells, simplicity and rapidity.更多还原