Weinshilboum R M, Raymond F A
Am J Hum Genet. 1977 Mar;29(2):125-35.
Catechol-O-methyltransferase activity was measured in blood obtained from 373 randomly selected subjects aged 16-18, 262 consecutive adult blood donors, and 201 first-degree relatives of subjects with RBC COMT activity of less than 8 U. The distribution of RBC COMT activity in a randoly selected populations was apparently bimodal with a nadir at approximately 8 U. Of a randomly selected population, 23% had low RBC COMT activity (less than 8 U), Because of previous reports of a significant sibling-sibling correlation of RBC COMT activity and because of the presence of a subgroup of subjects with low enzyme activity, RBC COMT activity was measured in blood from first-degree relatives of probands with low erythrocyte enzyme activity in 48 families. The results of segregation analyses of the data were compatible with autosomal recessive inheritence of an allele for low RBC COMT activity. RBC COMT in blood samples from siblings of probands inthese families also showed an apparent biomodal distribution.
对从373名年龄在16 - 18岁的随机选择的受试者、262名连续的成年献血者以及201名红细胞儿茶酚 - O - 甲基转移酶（COMT）活性低于8 U的受试者的一级亲属中获取的血液进行了儿茶酚 - O - 甲基转移酶活性测定。在随机选择的人群中，红细胞COMT活性分布明显呈双峰，最低点约为8 U。在随机选择的人群中，23%的人红细胞COMT活性较低（低于8 U）。由于之前有报道称红细胞COMT活性在同胞之间存在显著相关性，并且存在酶活性较低的受试者亚组，因此对48个家庭中红细胞酶活性低的先证者的一级亲属的血液进行了红细胞COMT活性测定。数据的分离分析结果与红细胞COMT活性低的等位基因的常染色体隐性遗传相符。这些家庭中先证者的同胞的血液样本中的红细胞COMT也显示出明显的双峰分布。
