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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。
In order to explore the histochemical method for the prenatal diagnosis in the first trimester, we studied the following 20 kinds of enzymes related to congenital metabolic defects in the chorionic villi of 6-9 weeks of gestation, and classified them according to the intensity of the grouping reaction. (1) β-glucuronidase; (2) β-galactosidase; (3) arylsulfatase; (4) β-N-acetylglucosaminidase; (6) NADH dehydrogenase; (7) Adenosine triphosphatase; (8) Alkaline phosphatase; (9) Acid phosphatase; (10) Creatine phosphokinase; Hydrogenase; (12) Aldolase; (13) Xylitol dehydrogenase; (14) Alcohol dehydrogenase; (15) Xanthine oxidase; (16) Catalase; Carbamoyltransferase; (18) lipase (19) cholinesterase; (20) γ-glutamyl transpeptidase. The results of the histochemical reaction showed that the last 6 enzymes were negative. As the first 14 kinds of enzymes were positive reactions, it is likely to be used for prenatal diagnosis of congenital metabolic diseases caused by the lack of the same name. Experiments show that the biochemical method than the biochemical method has less amount of villi, there is no mother cell contamination problems, and the method is simple, fast and so on.