国际麻醉学与复苏杂志   2020, Issue (12): 0-0
    
中国西北地区汉族扁桃腺样体手术患儿阿片类药物相关基因多态性的分布
杨玉峰, 吴志新, 李姣阳, 孟繁思, 曾毅1()
1.空军军医大学西京医院
Distribution of opioid related gene polymorphism in Han children undergoing adenoflat surgery in Northwest China
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摘要:

目的 对接受扁桃体腺样体手术的中国西北部地区汉族患儿 OPRM1、CYP3A4*1G、CYP3A4*18B 和 ABCB1 的基因型种类进行回顾,明确与镇痛相关的基因突变率。方法 西京医院2016年9月至2019年9月籍贯为西北地区省市(陕西、甘肃、宁夏、青海、新疆)的汉族腺样体扁桃体手术患儿513例,年龄3~12周岁,男337例,女176例,对其OPRM1、CYP3A4*1G、CYP3A4*18B 和 ABCB1 基因多态性检测结果进行回顾。 结果 OPRM1(118AG)突 变 杂 合 子 AG 型 的 占 比为 42.88%,突变纯合子GG 型的占比为 9.55%。CYP3A4*1G的CC、TT、TC、CT 的占比分别为54.58%、5.09%、40.35%、0%。CYP3A4*18B杂合子AA型的占比为99.03%,AG型的占比为0.97%。ABCB1的 CC、TT、TC、CT的占比分别为32.49%、24.34%、42.69%、0%。男性和女性各基因型分布差异无统计学意义。结 论 西北汉族腺样体扁桃体手术患儿中与芬太尼等阿片类药物相关的4个基因位点有3个的突变率较高,提示基因位点突变的测定具有指导临床麻醉用药的重要研究价值。

关键词: 基因多态性;西北地区;汉族群体;儿童;频率
Abstract:

Objective To review the genotypes of OPRM1, CYP3A4*1G, CYP3A4*18B and ABCB1 in children undergoing adenoid tonsillectomy in northwestern China, and to identify the gene mutation rate related to analgesia. Methods From September 2016 to October 2019, 513 children (337 males and 176 females) with adenoid tonsil surgery in Northwest China (Shaanxi, Gansu, Ningxia, Qinghai, Xinjiang) were enrolled in Xijing Hospital. The detection results of OPRM1, CYP3A4*1G, CYP3A4*18B and ABCB1 gene polymorphisms were reviewed. Results The proportion of OPRM1 (118A G) mutant heterozygote AG type was 42.88%, and that of mutant homozygote GG type was 9.55%. The percentages of CC, TT, TC and CT in CYP3A4*1G were 54.58%, 5.09%, 40.35% and 0%, respectively. The proportion of CYP3A4*18B heterozygote AA type and AG type was 99.03% and 0.97%, respectively. The percentages of CC, TT, TC and CT in ABCB1 were 32.49%, 24.34%, 42.69% and 0%, respectively. There was no significant difference in the distribution of genotypes between male and female. Conclusion Three of the four gene loci related to opioids such as fentanyl have a high mutation rate in children undergoing adenoid tonsillectomy in Northwest Han nationality, suggesting that the determination of gene site mutation has important research value in guiding clinical anesthetic use.

Key words: Genetic polymorphism; North-western China; Han children group; Frequency