无丁酰胆碱酯酶活性患者中BCHE基因的新型突变。
Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity.
作者信息
On-Kei Chan Angel, Lam Ching-Wan, Tong Sui-Fan, Man Tung Cheng, Yung Kwok, Chan Yan-Wo, Au Kam-Ming, Yuen Yuet-Ping, Hung Chi-Tim, Ng Kin-Pong, Shek Chi-Chung
机构信息
Department of Pathology, Queen Elizabeth Hospital, Hong Kong, China.
出版信息
Clin Chim Acta. 2005 Jan;351(1-2):155-9. doi: 10.1016/j.cccn.2004.09.004.
BACKGROUND
Butyrylcholinesterase (BCHE) deficiency is characterized by prolonged apnea after the use of certain muscle relaxants with the genetic defect lying in the BCHE gene.
METHODS
Two Chinese patients with no serum BCHE activity were studied. The BCHE genes were screened for mutations by polymerase chain reaction and direct DNA sequencing.
RESULTS
Of the four mutations detected, two novel mutations were identified in the two patients, i.e., F474L, and an insertion of an adenine between nucleotide positions 395 and 396. This information was used to screen the immediate families of the patients for carrier status.
CONCLUSIONS
We established the molecular basis of butyrylcholinesterase deficiency in two Chinese patients. The developed mutation detection assay provides a reliable method for identifying mutant BCHE carriers.
背景
丁酰胆碱酯酶（BCHE）缺乏症的特征是使用某些肌肉松弛剂后出现长时间呼吸暂停，其遗传缺陷存在于BCHE基因中。
方法
对两名无血清BCHE活性的中国患者进行了研究。通过聚合酶链反应和直接DNA测序筛选BCHE基因的突变。
结果
在检测到的四个突变中，在两名患者中鉴定出两个新突变，即F474L，以及在核苷酸位置395和396之间插入一个腺嘌呤。这些信息用于筛查患者的直系亲属是否为携带者。
结论
我们确定了两名中国患者丁酰胆碱酯酶缺乏症的分子基础。所开发的突变检测方法为鉴定突变型BCHE携带者提供了一种可靠的方法。
Zotero 插件