深圳地区汉族急性白血病儿童GSTP1全编码区基因多态性分析  

Analysis for polymorphism of entire coding region of glutathione S-transferase Pi gene in Chinese Han children with acute leukemia

作　　者：任艳飞[1] 岳丽杰[1] 谢偲[1] 丁慧[1] 邹泽巧 赵玮 

机构地区：[1]遵义医学院附属深圳市儿童医院儿科研究所,广东深圳518026 [2]罗湖区妇幼保健院儿科,广东深圳518026

出　　处：《临床检验杂志》2015年第1期19-23,共5页Chinese Journal of Clinical Laboratory Science

基　　金：国家自然科学基金(30471830);深圳市科技计划重点项目(20110101)

摘　　要：目的研究深圳地区汉族急性白血病(AL)患儿谷胱甘肽转移酶P1(GSTP1)基因全编码区内的单核苷酸多态性(SNPs)基因型和等位基因频率分布特征。方法用RT-PCR和变性梯度凝胶电泳(DGGE)技术对108例AL患儿和121例对照儿童的GSTP1全编码区内的SNPs进行筛查分析。结果在GSTP1全编码区内共筛查到3个SNPs位点,包括1个热点突变位点A313G(Ile105Val,rs1695)、1个错义突变位点G439T(Asp147Tyr,rs4986949)和1个同义突变位点T555C(Ser185Ser,rs4891),其在汉族儿童分布等位基因总频率分别为16.4%、1.3%和16.4%,且具有明显的种族差异性。GSTP1 A313G、G439T和T555C多态性各基因型和等位基因频率分布在AL患儿和对照组儿童中差异均无统计学意义(P分别为0.691和0.359;0.898和0.581、0.691和0.359)。结论对深圳地区汉族儿童GSTP1基因全编码区多态性进行筛查分析,确定了GSTP1 A313G,G439T和T555C 3个SNPs位点,其具有种族差异性且与儿童AL发病风险均无关。Objective This study aimed to investigate the single nucleotide polymorphisms （SNPs） in entire coding region of glutathi- one S-transferase Pi （ GSTP1 ） gene and the distribution of genotypes and alleles in healthy children and the patients with acute leuke- mia （AL） of Han nationality in Shenzhen. Methods SNPs in entire coding region of GSTP! in 108 patients with AL and 121 healthy controls were screened using reverse transcription-polymerase chain reaction （RT-PCR） and the denaturing gradient gel electrophoresis （DGGE）. Results Three SNPs were identified in the entire coding region of GSTP1 including a hot spot mutation of SNPs A313G （Ilel05Val, rs1695）, a missense mutation G439T （Asp147Tyr, rs4986949） and a synonymous mutation T555C （Ser185Ser, rs4891 ）. The alletic frequencies of the three SNPs in Han nationality children were 16.4%, 1.3% and 16.4% respectively which exhibited obvious ethnic variation. No significant difference of the frequencies of genotypes and alleles at GSTP1 A313G, G439T and T555C was shown between AL patients and healthy children （P = 0. 691, 0. 359 ; 0.898, 0.581 and 0. 691,0.359）. Conclusion In the analysis for all coding region of SNPs of GSTP1 in the children of Han nationality in Shenzhen, three SNPs, i. e. , A313G, G439T and T555C were found. There was no correlation between the three SNPs and the risk of AL.

关 键 词：谷胱甘肽转移酶P1 单核苷酸多态性 急性白血病 儿童 

分 类 号：R733.71[医药卫生—肿瘤]