Tamarkina A D, Annenkov G A, Filippov I K, Lamchingiĭn T
Genetika. 1977;13(5):929-32.
The activity of cytoplasmic superoxydase (SOD-1) was studied in erthrocytes of 17 patients affected with Down's syndrome (trisomy 21) and in 26 healthy persons. A 1.56-fold increase of the enzyme activity was observed in the group of patients as compared with the control group. This could be explained as the dosage effect of the corresponding gene located in the chromosome 21.
对17名唐氏综合征(21三体)患者和26名健康人的红细胞中的细胞质超氧化物酶(SOD-1)活性进行了研究。与对照组相比,患者组中该酶的活性增加了1.56倍。这可以解释为位于21号染色体上相应基因的剂量效应。