Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase.
Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase.
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发表时间：
1992-10
影响因子：
9.8
通讯作者：
C. P. Nogueira;C. Bartels;I. M. C. McGuire;S. Adkins;T. Lubrano;M. Herbert;Rubinstein;H. Lightstone;A. Spek;O. Lockridge;B. Du
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作者：
C. P. Nogueira;C. Bartels;I. M. C. McGuire;S. Adkins;T. Lubrano;M. Herbert;Rubinstein;H. Lightstone;A. Spek;O. Lockridge;B. Du
人丁酰胆碱酯酶的氟化物变体的名称来源于在体外试验中观察到其对0.050 mM氟化钠的抑制具有抗性。氟杂合子和非典型等位基因的个体在接受琥珀酰胆碱后经历约30分钟的呼吸暂停，而不是通常的3-5分钟。早先我们报道过非典型变异有一个核苷酸替换，将Asp 70变为Gly。在目前的工作中，我们已经确定了两个不同的点突变与耐氟表型。氟化物-1具有将Thr 243变为Met的核苷酸取代（ACG变为ATG）。氟化物-2具有将Gly 390变为瓦尔（GGT变为GTT）的取代。这些结果是通过PCR扩增后的丁酰胆碱酯酶基因的DNA序列分析获得的。这些分析的受试者为4名患者和21名家庭成员。
The fluoride variant of human butyrylcholinesterase owes its name to the observation that it is resistant to inhibition by 0.050 mM sodium fluoride in the in vitro assay. Individuals who are heterozygous for the fluoride and atypical alleles experience about 30 min of apnea, rather than the usual 3-5 min, after receiving succinyldicholine. Earlier we reported that the atypical variant has a nucleotide substitution which changes Asp 70 to Gly. In the present work we have identified two different point mutations associated with the fluoride-resistant phenotype. Fluoride-1 has a nucleotide substitution which changes Thr 243 to Met (ACG to ATG). Fluoride-2 has a substitution which changes Gly 390 to Val (GGT to GTT). These results were obtained by DNA sequence analysis of the butyrylcholinesterase gene after amplification by PCR. The subjects for these analyses were 4 patients and 21 family members.