Weinshilboum R M
Hum Genet Suppl. 1978(1):101-12. doi: 10.1007/978-3-642-67179-1_15.
The purpose of the studies reviewed here was to investigate the role of inheritance in the regulation of human plasma dopamine-beta-hydroxylase (DBH) and human erythrocyte (RBC) catechol-O-methyltransferase (COMT) activities. DBH is a catecholamine biosynthetic enzyme and COMT is catecholamine metabolic enzyme. It has been suggested that the level of the activities of these enzymes in human blood might reflect the function or status of the adrenergic nervous system. Both enzyme activities were measured in blood samples from large, randomly selected populations of children, adolescents, and adults, and in the blood of first-degree relatives of subjects with either very low plasma DBH activity (less than 50 U/ml) or very low RBC COMT activity (less than 8U/ml). A radioimmunoassay for human plasma DBH was also used in these studies. The results of sibship and pedigree analyses of data from families of probands with very low enzyme activities were compatible with the autosomal recessive inheritance of an allele for very low plasma DBH activity that results in a decrease in DBH protein in plasma, and the autosomal recessive inheritance of an allele for low erythrocyte COMT activity.
此处所综述的研究目的是调查遗传因素在调控人血浆多巴胺-β-羟化酶（DBH）和人红细胞（RBC）儿茶酚-O-甲基转移酶（COMT）活性中的作用。DBH是一种儿茶酚胺生物合成酶，而COMT是一种儿茶酚胺代谢酶。有人提出，人血液中这些酶的活性水平可能反映了肾上腺素能神经系统的功能或状态。在来自随机选取的大量儿童、青少年和成年人的血液样本中，以及在血浆DBH活性极低（低于50 U/ml）或红细胞COMT活性极低（低于8 U/ml）的受试者的一级亲属的血液中，均测量了这两种酶的活性。这些研究还使用了一种人血浆DBH的放射免疫测定法。对酶活性极低的先证者家族的数据进行的同胞关系和系谱分析结果表明，血浆DBH活性极低的等位基因呈常染色体隐性遗传，这导致血浆中DBH蛋白减少；而红细胞COMT活性低的等位基因也呈常染色体隐性遗传。
