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血液细胞化学用于先天性代谢缺陷患者及携带者的检出与诊断的研究
A study on the test and diagnosis of inborn error of metabolism by haematological cytochemistry
【摘要】 为探索血液细胞化学技术用于先天性代谢缺陷的检查与诊断,本文研究了血细胞中与代谢缺陷有关的酶.并对各种酶的显示方法.反应物的形态、分布,进行了观察与记述,同时还应用半定量技术对酶反应强度进行分级,取得了各种酶活性的正常值,从而为实际应用提供一些有价值的基础资料。本文首先报告下列一些酶:(1)过氧化氢酶,(2)髓性过氧化物酶,(3)黄嘌呤氧化酶,(4)乳酸脱氢酶,(5)谷氨酸脱氢酶,(6)NADH脱氢酶,(7)NADPH脱氢酶,(8)醇脱氢酶,(9)6—磷酸葡萄糖脱氢酶,(10)6—磷酸葡萄糖酸脱氢酶,(11)3β—羟基类固醇脱氢酸,(12)3—磷酸甘油醛脱氢酶,(13)木糖醇脱氢酶,(14)醛缩酶,(15)发酸酐酶,(16)磷酸葡萄糖异构酶。
【Abstract】 In order to research the test of inborn error of metabolism by haematological cytochemistry, some enzymes concerned with inborn error metabolism are indicated in white cells. Those are: 1. catalase,2. peroxidase, 3. xanthine oxidase, 4. lactate dehy drogenase, 5. glutamic dehydrogenase, 6. NADH dehydrogenase, 7. NADPH dehydrogenase, 8. Al cohol dehydrogenase, 9. glucose-6-phosphate dehy drogenase, 10. 6-phosphogluconic dehydrogenase,11. 3β-hydroxy-steroid dehydrogenase, 12. Glyc eroaldehyde-3-phosphate dehydrogenase, 13. Xyli tol dehydrogenase, 14. aldolase B, 15. carbonic an hydrase and 16. glucose-phosphate isomerase,which are the evidence for the clinical practice.
【Key words】 Haematological cytochemistry; Inborn error of metabolism; Oxidoreductases; Lyases; Isomorase;
- 【文献出处】 中国优生与遗传杂志 ,CHINESE JOURNAL OF BIRTH HEALTH & HEREDITY , 编辑部邮箱 ,1997年06期
- 【分类号】R346
- 【下载频次】18