焦磷酸测序技术检测UGT1A3和UGT2B7在中国汉族人群中的基因多态性  

Pyrosequencing method for the detection of UGT1A3 and UGT2B7 gene polymorphism in Chinese Han population

作　　者：许景峰[1] 赵刚涛[1] 许茜[1] 丁媛媛[1] 杨凡[1] 阎晨霞[1] 

机构地区：[1]北京军区总医院临床药理科,北京100700

出　　处：《中南药学》2011年第10期728-733,共6页Central South Pharmacy

摘　　要：目的建立焦磷酸测序技术(pyrosequencing)研究二相代谢酶UGT1A3和UGT2B7基因多态性在中国汉族人群中的分布。方法应用带生物素标记扩增引物并经PCR扩增和Beads分离,制备UGT1A3和UGT2B7焦磷酸测序单倍摸板。在PYroMarkID焦磷酸测序上进行焦磷酸测序,检测233血样的DNA标本的17个SNP位点,以确定血样DNA标本的的基因型。结果 233例血样的DNA标本中,UGT1A3等位基因有9种表型,分别为UGT1A3*1*1、UGT1A3*1*2、UGT1A3*1*3、UGT1A3*1*4、UGT1A3*1*5、UGT1A3*2*3、UGT1A3*2*4、UGT1A3*3*3和UGT1A3*3*5。UGT2B7-1和UGT2B7-2各有3种基因型,分别为G/G型、G/T型、T/T和C/C型、C/T型、T/T型。结论我国汉族人群中UGT1A3和UGT2B7基因突变较高。Objective To establish a pyrosequencing-based method to detect UGT1A3 and UGT2B7 gene polymorphism in Chinese population.Methods Biotin-labeled primers,amplification of PCR,separation of Beads,and preparation of UGT1A3 and UGT2B7 pyrosequencing single-stranded template of mutational sites were done to determine the allelic frequency of the UGT1A3 and UGT2B7 mutant in 233 Chinese subjects by pyrosequencing apparatus.Results There were 9 genetypes of the allele of UGT1A3：UGT1A3＊1＊1,UGT1A3＊1＊2,UGT1A3＊1＊3,UGT1A3＊1＊4,UGT1A3＊1＊5,UGT1A3＊2＊3,UGT1A3＊2＊4,UGT1A3＊3＊3,and UGT1A3＊3＊5 respectively.There were 3 genetypes based on the presence of UGT2B7-1： genetypes G/G,G/T,and T/T;and 3 genetypes of the allele of UGT2B7-2： C/C,C/T,and T/T.Conclusion The frequency of the UGT1A3 and UGT2B7 mutant allele is high in Chinese population.

关 键 词：焦磷酸测序技术 基因多态性 UGT1A3 UGT2B7 基因型 

分 类 号：R968[医药卫生—药理学]