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

摘要

[Objective]To investigate the distribution of γ-glutamyl hydrolase gene (GGH) 452C/Tgenotype 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 (cDNAs).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.%目的 研究γ-谷氨酰水解酶( γ-glutamyl hydrolase,GGH)基因452C/T单核苷酸多态性(single nucleotide polymorphism,SNP)在急性白血病(acute leukemia,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GGH 452 TT、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％、l6.9％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GGH 452C/T的等位基因频率,并初步确认GGH 452C/T基因多态性存在种、族差异.