[1]郭九叶,耿珊珊,高月乔,等.北京地区新生儿细胞色素P450单核苷酸多态性及其代谢表型分布的研究[J].现代检验医学杂志,2018,33(06):9-12.[doi:10.3969/j.issn.1671-7414.2018.06.003]
　GUO Jiu-ye,GENG Shan-shan,GAO Yue-qiao,et al.Distribution of Single Nucleotide Polymorphisms of Cytochrome P450 Genes and Metabolic Phenotypes of Newborn Infants in Beijing Area[J].Journal of Modern Laboratory Medicine,2018,33(06):9-12.[doi:10.3969/j.issn.1671-7414.2018.06.003]
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北京地区新生儿细胞色素P450单核苷酸多态性及其代谢表型分布的研究()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第33卷
期数:
2018年06期
页码:
9-12
栏目:
论著
出版日期:
2018-12-24

文章信息/Info

Title:
Distribution of Single Nucleotide Polymorphisms of Cytochrome P450 Genes and Metabolic Phenotypes of Newborn Infants in Beijing Area
文章编号:
1671-7414(2018)06-009-04
作者:
郭九叶; 耿珊珊; 高月乔; 孙志华
北京市朝阳区妇幼保健院,北京 100026
Author(s):
GUO Jiu-ye; GENG Shan-shan; GAO Yue-qiao; SUN Zhi-hua
Beijing Chaoyang Maternal and Child Health Hospital,Beijing 100026,China
关键词:
细胞色素P450;  单核苷酸多态性;  基因频率;  代谢表型;  慢代谢
分类号:
Q786; R722.1
DOI:
10.3969/j.issn.1671-7414.2018.06.003
文献标志码:
A
摘要:
目的 了解北京地区新生儿细胞色素P450(cytochrome P450,CYP450)重要单核苷酸多态性(single nucleotide polymorphisms,SNPs)位点及其代谢表型的分布情况,为儿童的精准用药提供支持。方法 利用Taqman-PCR方法检测1 000例新生儿的CYP2D6(100C>T),CYP2C9(1075A>C),CYP2C19(681G>A),CYP2C19(636G>A),CYP3A4(878T>C)和CYP3A5(6986A>G)位点基因型及等位基因频率,并计算其代谢表型分布。结果 ①CYP2D6(100C>T)和CYP3A5(6986A>G)位点的杂合型基因型频率较高,分别为51.7%和44.9%。CYP3A5(6986A>G)位点的突变型等位基因频率较高,为61.8%。②CYP2D6,CYP2C9和CYP3A4均以快代谢型为主,检出率分别为79.0%,99.8%和100%。慢代谢型主要是CYP2C19和CYP3A5基因,检出率分别为12.5%和39.4%。③CYP450各亚型基因型分布在不同性别间比较差异均无统计学意义(χ2=0.113～3.316,均P>0.05)。结论 CYP3A5(6986A>G)和CYP2D6(100C>T)在新生儿人群中的突变频率较高,CYP3A5和CYP2C19的慢代谢型人群分布较高,在临床用药中要注意结合基因检测结果来确定用药剂量。
Abstract:
Objective To survey the distribution of the important single nucleotide polymorphisms(SNPs)loci and their metabolic phenotypes of cytochrome P450(CYP450)of newborn infants in Beijing and provide supportsfor children's precise drug use.Methods The DNA samples of 1 000 newborn infants were detected by Taqman-PCR method on CYP2D6(100C>T),CYP2C9(1075A>C),CYP2C19(681G>A),CYP2C19(636G>A),CYP3A4(878T>C)and CYP3A5(6986A>G).The frequencies of genotypes and alleles were calculated,and the distributionpatterns of the 5 subtypes of CYP450 genes were obtained.Results ①The heterozygous genotype frequencies of CYP2D6(100C>T)and CYP3A5(6986A>G)loci were higher,51.7% and 44.9% respectively.The frequency of mutant alleles at CYP3A5(6986A>G)loci was 61.8%.②CYP2D6,CYP2C9 and CYP3A4 were mainly metabolites of fast metabolism,accounting for 79%,99.8%and 100% respectively.The poor metabolisms were mainly CYP2C19 and CYP3A5 genes,accounting for 12.5% and 39.4% respectively.③There was no significant difference in the distribution of CYP450 genotypes among different sexes(χ2=0.113～3.316,all P>0.05).Conclusion The mutationfrequency of CYP3A5(6986A>G)and CYP2D6(100C>T)in the newborn infants was higher,and the poor metabolic population of CYP3A5 and CYP2C19 was highly distributed.In clinical use,should pay attention to the combination of the results ofgene detection to determine the dosage of the drug.

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备注/Memo

备注/Memo:
基金项目:北京市朝阳区社会发展计划项目基因(编号:cysf1624)。
作者简介:郭九叶(1981-),女,硕士,主治医师,主要从事新生儿内科工作,E-mail:jyguo0425@163.com。
通讯作者:孙志华,男,主任医师,主要从事腹腔镜等妇科微创技术及基因诊断及治疗的研究,E-mail:szh0616@126.com。
更新日期/Last Update: 2018-11-30