摘要
目的:探讨药物基因CYP2C19、ALDH2、MTHFR的分型及在北京南城地区分布情况。方法:取患者外周全血标本,提取基因组DNA,PCR扩增含有目的基因的单链DNA,全自动杂交仪进行杂交,生物芯片识读仪分析结果,整理我院2016~2019年临床送检标本共5754例,对各基因分型结果进行分析。结果:标本类别、性别及年龄的差异均与各基因的基因型频率及代谢表型差异无统计学意义;各基因频率分布与送检科室、各疾病种类的差异无统计学意义。CYP2C19基因681位点G>A碱基突变率高于636位点,差异有统计学意义(P<0.01)。ALDH2基因位点A碱基突变率为15.8%;MTHFR(C677T)基因位点T碱基突变率为58.7%,TT型占36.3%,明显高于我国平均检出率,差异有统计学意义(P<0.05)。结论:CYP2C19、ALDH2、MTHFR基因型频率存在地区性差异。
Objective:To understand the genotyping of CYP2C19,ALDH2 and MTHFR genes and their distribution in southern Beijing.Methods:Collect periphery whole blood specimen and extract genome DNA from patients.The single stranded DNA which contains target gene will be later amplified by PCR technology.Then the gene hybridization will be conducted by auto-hybridization instrument and the results will be read by biochip reader.Altogether 5754 clinical samples in our hospital from 2016 to 2019 were tested and genetic typing results are going to be studied.Results:There are no significant differences in genotype frequencies and metabolic phenotypes among different genes in the samples,gender and age.No significant difference in the distribution of gene frequencies among different departments and diseases.The mutation rate of G>A base at 681 locus is higher than 636 locus of CYP2C19 gene(P<0.01).The mutation rate of A base of ALDH2 is 15.8%,and that of T base of MTHFR(C677T)is 58.7%.Conclusion:The genotype frequencies of CYP2C19,ALDH2 and MTHFR were different in different regions.
作者
赵婧
岳鹏
邢国征
于洪远
ZHAO Jing;YUE Peng;XING Guo-Zheng;YU Hong-Yuan(Department of Clinical Laboratory,Beijing Aerospace General Hospital,Beijing 100076;Yangfang Clinic,Northern Medical District of the PLA General Hospital,Beijing 102205,China)
出处
《生物技术通讯》
CAS
2020年第5期565-570,共6页
Letters in Biotechnology
基金
北京航天总医院创新基金科研立项(2020-610)。
