Hidaka K, Iuchi I, Tomita M, Watanabe Y, Minatogawa Y, Iwasaki K, Gotoh K, Shimizu C
Department of Biochemistry, Kawasaki Medical School, Kurashiki, Japan.
Ann Hum Genet. 1997 Nov;61(Pt 6):491-6. doi: 10.1046/j.1469-1809.1997.6160491.x.
A patient (64-year-old, male) with familial cholinesterasemia caused by BChE deficiency was studied. DNA sequence analysis of all exons identified a point mutation, an A-->G transition at codon 128, resulting in a Tyr-->Cys substitution. The propositus showed extremely low BChE activity, but his other family members (three individuals) showed from intermediate to normal BChE activity. An immunological method revealed the absence of BChE protein in serum of the propositus. Both PCR primer introduced restriction analysis (PCR-PIRA) and sequence analysis revealed all three family members to be heterozygotes for this mutation.
对一名因丁酰胆碱酯酶（BChE）缺乏导致家族性胆碱酯酶血症的患者（64岁男性）进行了研究。对所有外显子的DNA序列分析鉴定出一个点突变，即密码子128处的A→G转换，导致酪氨酸（Tyr）被半胱氨酸（Cys）取代。先证者表现出极低的BChE活性，但其其他家庭成员（三人）的BChE活性则介于中度至正常之间。免疫学法显示先证者血清中不存在BChE蛋白。聚合酶链反应引物引入限制性分析（PCR-PIRA）和序列分析均显示所有三名家庭成员均为该突变的杂合子。
