Sakamoto N, Hidaka K, Fujisawa T, Maeda M, Iuchi I
Department of Internal Medicine, Ishikawajima-harima Heavy Industries Harima Hospital, Health Insurance Society, Asahi, Aioi, Japan.
Clin Chim Acta. 1998 Jun 22;274(2):159-66. doi: 10.1016/s0009-8981(98)00058-8.
A point mutation which caused a silent phenotype of human serum butyrylcholinesterase (BChE) was identified in the DNA of a 47-year-old Japanese woman who visited our hospital complaining of hypertension. The propositus exhibited an unusually low level of BChE activity, whereas her younger sister and her daughter had intermediate levels of BChE activity and her elder sister a normal level. Immunologically, the amount of BChE protein in the serum of the propositus was normal. DNA sequence analysis of the propositus identified a point mutation at codon 199 (GCA --> GTA), resulting in a Ala --> Val substitution. This alteration is one downstream codon from the catalytic active site (Ser, 198). A family study showed her younger sister and her daughter to have the same mutation.
在我院就诊、主诉高血压的一名47岁日本女性的DNA中，发现了一种导致人血清丁酰胆碱酯酶（BChE）沉默表型的点突变。先证者表现出异常低水平的BChE活性，而她的妹妹和女儿的BChE活性处于中等水平，她的姐姐则为正常水平。从免疫学角度来看，先证者血清中BChE蛋白的量是正常的。对先证者进行DNA序列分析，确定密码子199处存在点突变（GCA→GTA），导致丙氨酸（Ala）被缬氨酸（Val）取代。这种改变位于催化活性位点（丝氨酸，198）下游的一个密码子处。家族研究显示，她的妹妹和女儿具有相同的突变。
