泸州地区苗族人群CYP2C19、ABCB1、CYP3A4和CYP3A5基因多态性分析
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篇名: 泸州地区苗族人群CYP2C19、ABCB1、CYP3A4和CYP3A5基因多态性分析
TITLE:
摘要: 目的:研究泸州地区苗族人群细胞色素P450(CYP)2C19、三磷酸腺苷结合盒亚家族B成员1(ABCB1)、CYP3A4和CYP3A5的基因型和基因型频率。方法:采用抛掷硬币法选择四川省泸州地区无直接血缘关系的健康苗族受试者54例,采用反转录-聚合酶链反应法对其CYP2C19、ABCB1、CYP3A4和CYP3A5基因进行扩增,扩增产物经检测、测序后,采用Chromas 2软件对其基因型进行比对分析,并对不同性别受试者CYP2C19、ABCB1、CYP3A4和CYP3A5基因型频率进行比较。结果:54例苗族受试者CYP2C19快代谢型(HomEM,*1*1基因型)、中代谢型(HetEM,*1*2或*1*3基因型)和慢代谢型(PM,*2*2、 *2*3或*3*3基因型)频率分别为20.37%、61.11%和18.52%;ABCB1 CC、CT和TT基因型频率分别为29.63%、51.85%和18.52%;CYP3A4 GG、GA和AA基因型频率分别为38.89%、53.70%和7.41%;CYP3A5 TT、TC和CC基因型频率分别为81.48%、16.67%和1.85%;不同性别苗族受试者CYP2C19、ABCB1、CYP3A4和CYP3A5基因型频率比较,差异均无统计学意义(P>0.05)。结论:苗族受试者中CYP2C19 HetEM型和CYP3A4 G等位基因携带者的比例较高,ABCB1多态性位点的实变率较高,CYP3A5 多态性位点的突变率较低;性别对泸州地区苗族受试者CYP2C19、ABCB1、CYP3A4和CYP3A5基因多态性的分布并无明显影响。
ABSTRACT: OBJECTIVE: To study the genotype and genetic frequency of cytochrome P450 (CYP) 2C19, ATP-binding cassette subfamily B member 1 (ABCB1), CYP3A4 and CYP3A5 in Miao population from Luzhou. METHODS: A total of 54 Miao population healthy volunteers without direct sibship were randomly selected from Luzhou area in Sichuan province by coins toss. RT-PCR was used to amplify CYP2C19, ABCB1, CYP3A4 and CYP3A5. PCR products were detected and sequenced. Chromas 2 software was used to analyze the genotypes, and compare genetic frequency of CYP2C19, ABCB1, CYP3A4 and CYP3A5. RESULTS: For CYP2C19, the frequencies of HomEM (*1*1 genotype), HetEM (*1*2 or *1*3 genotype) and PM (*2*2, *2*3 or *3*3 genotype) were 20.37%, 61.11% and 18.52% in 54 Miao population volunteers. For ABCB1, the frequencies of CC, CT and TT genotype were 29.63%, 51.85% and 18.52%, respectively. For CYP3A4, the frequencies of GG, GA and AA genotype were 38.89%, 53.70% and 7.41%, respectively. For CYP3A5, the frequencies of TT, TC and CC genotype were 81.48%, 16.67% and 1.85%, respectively. There was no significant differences in genetic frequency of CYP2C19, ABCB1, CYP3A4 and CYP3A5 among Miao population volunteers with different gender (P>0.05). CONCLUSIONS: There are high percent about CYP2C19 HetEM and CYP3A5 G allele in Miao population, high mutation rate of ABCB1 polymorphic site, and low mutation rate of CYP3A5 polymorphic site. Gender have no significant effect on the polymorphism of CYP2C19, ABCB1, CYP3A4 and CYP3A5 in Miao population from Luzhou area.
期刊: 2016年第27卷第32期
作者: 胡功利,王国俊,杨婷,陈竹,叶云
AUTHORS: HU Gongli,WANG Guojun,YANG Ting,CHEN Zhu,YE Yun
关键字: 基因多态性;反转录-聚合酶链反应法;苗族人群;泸州地区;CYP2C19;ABCB1;CYP3A4;CYP3A5
KEYWORDS: Genetic polymorphisms; RT-PCR; Miao population; Luzhou area; CYP2C19;ABCB1;CYP3A4;CYP3A5
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