腺苷脱氨酶常见变体与罕见变体动力学特性的比较。
A comparison of the kinetic properties of the common and rare variants of adenosine deaminase.
作者信息
Rogers P A, Hopkinson D A
出版信息
Ann Hum Genet. 1981 Feb;45(1):21-8. doi: 10.1111/j.1469-1809.1981.tb00302.x.
Adenosine deaminase activity has been measured in red cells from individuals of known ADA phenotype (ADA 1, ADA 2-1, ADA 3-1, ADA 3-2) using adenosine and 2'-deoxyadenosine as substrates. No significant differences were observed among the phenotypes in their relative deaminase activity with the two substrates. However, evidence suggests the occurrence of an uncommon allele designated ADA1w determining low levels of ADA activity. The deaminase activities of the phenotypes were in the order ADA 1 greater than ADA 2-1 greater than ADA 3-1 greater than ADA 3-2 with both substrates. The relative activities of the alleles were estimated to be: ADA1 100%, ADA2 89%, ADA3 28% and ADA1w 67% with adenosine, and ADA1 100%, ADA2 87%, ADA3 39% and ADA1w 66% with 2'-deoxyadenosine. The Michaelis constants for adenosine and 2'-deoxyadenosine were determined for the different phenotypes. There were no significant differences in these values among the phenotypes.
利用腺苷和2'-脱氧腺苷作为底物，已对已知ADA表型（ADA 1、ADA 2-1、ADA 3-1、ADA 3-2）个体的红细胞中的腺苷脱氨酶活性进行了测定。在这两种底物的相对脱氨酶活性方面，各表型之间未观察到显著差异。然而，有证据表明存在一种罕见的等位基因，命名为ADA1w，它决定了低水平的ADA活性。对于这两种底物，各表型的脱氨酶活性顺序为ADA 1＞ADA 2-1＞ADA 3-1＞ADA 3-2。等位基因的相对活性估计为：以腺苷为底物时，ADA1为100%，ADA2为89%，ADA3为28%，ADA1w为67%；以2'-脱氧腺苷为底物时，ADA1为100%，ADA2为87%，ADA3为39%，ADA1w为66%。已针对不同表型测定了腺苷和2'-脱氧腺苷的米氏常数。各表型在这些值上没有显著差异。
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