中国汉族健康人群CYP24A1的基因多态性研究  

Study on genetic polymorphisms of cytochrome P450 24A1 in healthy Han Chinese population

作　　者：林晓贞[1] 贺宝霞[1] 赵秀莉[1] 张文周[1] 李红霞[1] 田锋奇[1] 杜娟[1] 杨微[1] 于卫江[1] 张斌[1] 

机构地区：[1]郑州大学附属肿瘤医院河南省肿瘤医院药学部,郑州450003

出　　处：《中国临床药理学杂志》2017年第6期493-495,共3页The Chinese Journal of Clinical Pharmacology

基　　金：国家自然科学基金青年基金资助项目(81302796);河南省科技计划攻关基金资助项目(162102310157)

摘　　要：目的研究中国汉族健康人群CYP24A1基因多态性及其单倍型的分布。方法用基质辅助激光解吸电离飞行时间质谱技术(MALDI-TOF-MS)对203例无直接血缘关系的中国汉族健康受试者进行CYP24A1基因多态性检测,并使用Phase 2.1软件分析单倍型的分布频率。结果 rs1570669、rs34043203、rs3787557、rs6068816在中国汉族健康人群的分布频率分别为36.0%,16.3%,24.4%,31.5%,GCTT、GCTC、GCCC、ATTC单倍型的分布频率分别为27.7%,17.2%,14.3%,12.5%。结论 rs1570669、rs34043203、rs3787557、rs6068816在中国汉族健康人群中的分布频率较高,GCTT单倍型分布频率最高。Objective To detect the polymorphisms and haplotype of 25-hydroxyvitamin-D3-24-hydroxylase（CYP24A1） in Chinese healthy Han population.Methods Two hundred and three Chinese Han healthy volunteers were entrolled in this study.Matrix-assisted laser desorption ionization time-of-flight mass spectrometry（MALDI-TOF-MS） was used to identify the polymorphisms of CYP24A1.The haplotype frequencies were analyzed by Phase 2.1.Results The frequency distribution of CYP24A1 rs1570669,rs34043203,rs3787557,rs6068816 were 36.0%,16.3%,24.4%,31.5%.The frequency distribution of GCTT,GCTC,GCCC,ATTC in CYP24A1 haplotype were27.7%,17.2%,14.3%,12.5%.Conclusion The frequencies of these variants were high in Chinese healthy Han population.The frequency of GCTT haplotype was high as well.

关 键 词：细胞色素P450 24A1 基因多态性 分布频率 

分 类 号：R968[医药卫生—药理学]