丝氨酸羟甲基转移酶1基因C1420T位点和3'-非翻译区3个位点单核苷酸多态性与儿童急性白血病易感性的关系  

Correlations of single nucleotide polymorphisms of C1420T and 3 loci located in 3'-untranslated region of serine hydroxymethyl transferase 1 gene with susceptibility to pediatric acute leukemia

作　　者：丁慧[1] 岳丽杰[1] 于洁[2] 谢偲[1] 杨春兰[1] 任燕飞[1] 

机构地区：[1]重庆医科大学附属深圳儿童医院儿科研究所,广东深圳518026 [2]重庆医科大学附属儿童医院血液肿瘤科,重庆400014

出　　处：《临床检验杂志》2013年第10期778-781,共4页Chinese Journal of Clinical Laboratory Science

基　　金：国家自然科学基金项目(30471830);深圳市科技计划重点项目(201101011)

摘　　要：目的研究深圳地区汉族儿童丝氨酸羟甲基转移酶1（SHMT1）基因C1420T位点和3’-非翻译区（UTR）3个位点单核苷酸多态性（SNP）与急性白血病（AL）易感性的关系。方法以110例AL患儿、120例上呼吸道感染患儿和健康体检儿童为研究对象，用PCR、变性梯度凝胶电泳（DGGE）及DNA测序检测研究对象SHMT1 C1420T（rs1979277）和3’-UTR3个位点（rs3783、rs1979276及rs12952556）基因型和等位基因频率，分析其与AL易感性的关系。结果AL患儿SHMT1编码区C1420T位点CT（杂合型）和TT（纯合型）基因型频率较对照组升高（17．3％vs10．8％和1．8％vs1．7％），但差异无统计学意义（Х^2分别为2．006和0，P均〉0．05）；CT和TT基因型与儿童AL发病风险无相关性，其风险比（OR）分别为0．580（0．271—1．240）、0．848（0．117～6．140）。3’-UTR rs3783、rs1979276及rs12952556与C1420T具有相同的基因型分布状态，即在同一个体内该4个位点同为野生、杂合或纯合型基因。经SNPStats在线软件分析，该4个SNP位点两两间的连锁不平衡系数均为D’=1和r^2=1。结论深圳地区汉族儿童SHMT1个位点SNP与AL易感性无关，但可能呈完全连锁不平衡。Objective To investigate the correlations of single nucleotide polymorphisms （SNPs） of C1420T and 3 loci located in 3＇- untranslated region （UTR） of serine hydroxymethyl transferase 1 （SHMT1） gene with the susceptibility to pediatric acute leukemia （AL） in Chinese Han children lived in Shenzhen. Methods A total of 110 children with AL and 120 controls （healthy children or the children with upper respiratory tract infection） were included as the subjects in this study. The genotypes and allele frequencies of the C1420T （rs1979277） and 3 loci （rs3783, rs1979276 and rs12952556） located in 3＇- UTR of SHMT1 were detected by polymerase chain reaction （ PCR）, denaturing gradient gel electrophoresis （DGGE） and direct sequencing, and the correlations between the SNPs and susceptibility to acute leukemia were analyzed. Results The genotype frequencies of CT （heterozygous） and TT（homozygous） of SHMTI C1420T located in the coding regions of the children with AL were higher than those in controls （ 17.3% vs 10.8% and 1.8% vs 1.7% ）, but there were no statistical differences between the 2 groups （Х^2 of were 2. 006 and 0 respectively, both of P value were greater than 0.05 ）. No correlation between CT or TT genotype and increased risk of pediatric acute leukemia was found, and the odds ratios （OR） were 0. 580 （0. 271 - 1. 240） and 0. 848 （0. 117 - 6. 140） respectively. The genotype distributions of rs3783, rs1979276 and rs12952556 in 3＇-UTR were similar to those of C1420T, i. e. , wild, heterozygous and homozygotic type of all the 4 loci were coexistent in a single subject, and the coefficients of linkage disequilibrium （LD） between any two of the 4 loci were 1 （ D＇ = 1 and r^2 = 1 ） by analyzing with SNPStats online software. Conclusion No correlations of the SNPs of the 4 loci in SHMT! with the susceptibility to acute leukemia in Chinese Han children lived in Shenzhen, but the 4 loci may exhibit complete linkage disequilibrium.

关 键 词：丝氨酸羟甲基转移酶1 单核苷酸多态性 急性白血病 易感性 

分 类 号：R725.5[医药卫生—儿科] R446[医药卫生—临床医学]