Scanlon P D, Raymond F A, Weinshilboum R M
Science. 1979 Jan 5;203(4375):63-5. doi: 10.1126/science.758679.
Low catechol-O-methyltransferase (COMT) activity (less than 8 units per milliliter) in the human erythrocyte is inherited as an autosomal recessive trait (COMTL). The average half-life of COMT in erythrocyte lysates incubated at 48 degrees C was significantly shorter in lysates from three subjects with low enzyme activity than in lysates from three subjects with high enzyme activity (12.5 +/- 0.9 minutes compared with 21.2 +/- 1.4 minutes, P less than .01). When the ratios of COMT activities in lysates heated at 48 degrees C for 15 minutes to enzyme activities in unheated samples were used as a measure of enzyme thermostability in blood samples from 316 randomly selected subjects, the ratios were significantly less for subjects with low enzyme activity than for subjects with higher enzyme activity. The presense of thermolabile COMT in blood of individuals homozygous for COMTL raises the possibility that the locus COMT may represent the structural gene for the human enzyme.
人类红细胞中儿茶酚 - O - 甲基转移酶（COMT）活性低（低于每毫升8单位）作为常染色体隐性性状（COMTL）遗传。在48摄氏度孵育的红细胞裂解物中，三名酶活性低的受试者的裂解物中COMT的平均半衰期明显短于三名酶活性高的受试者的裂解物（分别为12.5±0.9分钟和21.2±1.4分钟，P小于0.01）。当将在48摄氏度加热15分钟的裂解物中的COMT活性与未加热样品中的酶活性之比用作316名随机选择受试者血样中酶热稳定性的指标时，酶活性低的受试者的该比值明显低于酶活性高的受试者。COMTL纯合个体血液中存在热不稳定的COMT增加了COMT基因座可能代表人类该酶结构基因的可能性。
