急性白血病儿童γ-谷氨酰水解酶基因452C／T单核苷酸多态性研究  

Analysis of a 452C/T single nucleotide polymorphism in γ-glutamyi hydrolase gene in children with acute leukemia~

作　　者：张洪洪[1] 岳丽杰[1] 陈小文[1] 赵玮[1] 胡椿艳[1] 郑苗苗[1] 杨春兰[1] 谢偲[1] 

机构地区：[1]遵义医学院深圳市儿童医院,广东省珠海市518026

出　　处：《中华医学遗传学杂志》2012年第3期352-355,共4页Chinese Journal of Medical Genetics

基　　金：基金项目：国家自然科学基金（30471830）;深圳市科技计划项目（200802065）

摘　　要：目的研究γ-谷氨酰水解酶（-γ-glutamylhydrolase，GGH）基因452C／T单核苷酸多态性（singlenucleotidepolymorphism，SNP）在急性白血病（acuteleukemia，AL）患儿和正常儿童中的频率及分布特征。方法应用逆转录-PCR-变性梯度凝胶电泳结合DNA直接测序技术，对92例AL患儿和124名正常儿童的cDNAs进行GGH基因第452位点SNP筛查。结果AL组中GGH452TT、CT及CC基因型频率分别为2．2％、13．0％和84．8％；对照组中相应3种基因型频率分别为1．6％、16．9％和81．5％；两组T等位基因频率分别为8．7％和10．1％；两组间的基因型频率及等位基因频率差异无统计学意义（P〉0．05），但中国儿童与日本、非裔-美洲及墨西哥人群的T等位基因频率差异均具有统计学意义（P〈0．05）。结论确定了中国汉族儿童GGH452C／T的等位基因频率，并初步确认GGH452C／T基因多态性存在种’族差异。Objective To investigate the distribution of γ-glutamyl hydrolase gene （GGH） 452C/T genotype and allele frequency in children with acute leukemia （AL） and healthy children. Methods Bone marrow samples from 92 children with AL and peripheral blood samples from 124 healthy children were obtained to prepare complementary DNAs （eDNAs）. The cDNAs were analyzed for a GGH 452C/T polymorphism by reverse transcriptase-polymerase chain reaction-denaturing gradient gel electrophoresis （RT-PCR-DGGE） and direct sequencing. Results The frequencies of the AL patients with TT, CT and CC genotypes were 2.2%, 13.0% and 84.8%, and the frequencies of the control children were 1.6%, 16.9% and 81. 5%, respectively. There was no significant difference in GGH genotype or T allele frequency between the two groups （P 〉 0. 05）. However, the T allele frequency in Han Chinese children was significantly different from those reported in Japanese, Mexican and African-American populations. Conclusion The frequency of 452C/T polymorphism of GGH gene in Han Chinese children has been determined. The results suggested that an ethnic difference may exist.

关 键 词：γ谷氨酰水解酶基因 单核苷酸多态性 变性梯度凝胶电泳 急性白血病 

分 类 号：R733[医药卫生—肿瘤]