UGT2B17拷贝数变异的研究进展  

Research progress of UGT2B17 copy number variation(CNV)

作　　者：徐毛迪 何春远 谢海棠[3] XU Mao-di;HE Chun-yuan;XIE Hai-tang(Wannan Medical College,Anhui Wuhu 241000,China;Lu＇an Peo,pie＇s Hospital,Anhui Lu＇an 237005,China;Yijishan Hospital of Wannan Medical College,Anhui Wuhu 241000,China)

机构地区：[1]皖南医学院,安徽芜湖241000 [2]安徽省六安市人民医院,安徽六安237005 [3]皖南医学院弋矶山医院临床药学部,安徽芜湖241000

出　　处：《中国医院药学杂志》2018年第21期2291-2295,共5页Chinese Journal of Hospital Pharmacy

摘　　要：尿苷二磷酸葡萄糖醛酸基转移酶(UDP-g1ucuronosyltransferase,UGT)是人体内重要的Ⅱ相代谢酶,UDP-尿苷二磷酸葡萄糖醛酸为其主要的糖基供体。UGT为多基因编码并且含有大量同工酶的超基因家族,包括UGT1和UGT2两个亚家族。UGT2B17是UGT2B家族的一员,越来越多的研究发现UGT2B17基因存在普遍遗传缺失现象,其造成的遗传差异对疾病的影响已引起了众多关注。UGT2B17基因拷贝数变异(Copy Number Variants,CNV)源自4号染色体上一段约120 kb的DNA序列缺失和插入,CNV发生频率高,种族差异明显,与器官移植、骨质疏松、肿瘤发生,乃至兴奋剂检测密切相关。UGT2B17的CNV研究及功能意义具有重大遗传药理学及药物基因组学意义。我们将从UGT2B17的基因拷贝数变异与种族差异、移植排斥反应与肿瘤发生发展等几个方面进行探讨。Uridine diphosphate glucuronyltransferase（UDP-g1 ucuronosyltransferase,UGT）is an important phase II metabolic enzyme in human,and UDP-uridine diphosphate glucuronic acid is its main glycosyl donor.UGT is a supergene family encoded by multiple genes and containing a number of isozymes,including two subfamilies,UGT1 and UGT2.Among them,UGT2 B17 is a member of UGT2 B family.In recent years,an increasing number of researches have found that there is a general phenomenon gene deletion existing in UGT2 B17,the effects of genetic differences on the disease have aroused many attentions.There is about 120 kb DNA sequence deletion and insertion on the chromosome 4 that leads to UGT2 B17 gene copy number variants（CNV）,this gene polymorphism with highly frequency and obviously racial differences,is closely related to organ transplantation,osteoporosis,tumorigenesis and doping test.Researches on copy number variants method of UGT2 B17 and its significance have great genetics and pharmacogenomics significance.Then the copy number variants of UGT2 B17 with racial differences,transplant rejection,tumor development and other aspects are discussed in this paper.

关 键 词：尿苷二磷酸葡萄糖醛酸基转移酶 UGT2B17 拷贝数变异 

分 类 号：R966[医药卫生—药理学]