汉族人巯基嘌呤甲基转移酶基因候选单核苷酸多态性筛选  

Identification of candidate single nucleotide polymorphisms of thiopurine methyltransferase in a han population

作　　者：梁爱斌[1] 谢晓恬[1] 黄国华[1] 叶辉[2] 江华[2] 石苇[1] 顾龙君[2] 

机构地区：[1]同济大学附属同济医院儿科,上海200065 [2]上海第二医科大学附属新华医院

出　　处：《上海医学》2003年第S1期82-84,共3页Shanghai Medical Journal

摘　　要：目的　对中国汉族人巯基嘌呤甲基转移酶 (TPMT)单核苷酸多态性 (SNPs)频率出现较高的热点区域进行筛选 ,以期发现新的候选SNPs ,为汉族人TPMT基因型检测提供完整的位点和理论依据。方法　采用ABI荧光标记自动测序仪检测TPMT 4个外显子及其周围部分内含子序列 ,确定候选SNPs位置和类型。结果　初步发现 3 0人份汉族人DNA样本中存在未见报导的 3个候选SNPs。结论　汉族人群中存在多种TPMT基因遗传多态性 。Objective To screen out the unidentified new single nucleotide polymorphisms (SNPs) to obtain the complete single point mutation for genotyping of thiopurine methyltransferase (TPMT). Methods DNA sequencing in areas having high frequent mutant sites including 1 intron and 4 exons of TPMT gene by means of fluorescence binding auto sequencer. Results 3 new candidate SNPs were discovered in 30 cases of DNA specimens. Conclusion There are many types of SNPs in TPMT gene which need large scale screening an...

关 键 词：巯基嘌呤甲基转移酶 遗传多态性 单核苷酸多态性 

分 类 号：R346[医药卫生—基础医学]