IKZF3基因单核苷酸多态性与儿童急性淋巴细胞白血病的相关性研究  

Correlation between single nucleotide polymorphism of IKZF3 gene and childhood acute lymphoblastic leukemia

作　　者：徐细花 叶若婷 谭利利 曹玲 方颖慧 钟秋香[1] 李丽萍 XU Xihua;YE Ruoting;TAN Lili;CAO Ling;FANG Yinghui;ZHONG Qiuxiang;LI Liping(Laboratory of Nanchang First Hospital,Nanchang,Jiangxi,330008,China;Laboratory of Guangdong Maternal and Child Health Hospital,Guangzhou,Guangdong,511400,China)

机构地区：[1]南昌市第一医院检验科,江西南昌330008 [2]广东省妇幼保健院检验科,广东广州511400

出　　处：《当代医学》2022年第29期1-4,共4页Contemporary Medicine

摘　　要：目的探讨IKZF3基因单核苷酸多态性(SNP)与儿童急性淋巴细胞白血病(ALL)的相关性。方法选取2018年9月至2021年2月于本院及广东省妇幼保健院接受治疗的78例ALL患儿作为观察组,另选本院同期健康体检的80名儿童作为对照组,采集两组外周血样本进行IKZF3基因SNP位点rs2952144 C>T与rs4795395 T>A基因分型检测,比较两组IKZF3基因SNP位点rs2952144 C>T与rs4795395 T>A基因分型分布情况及分析其与ALL相关性。结果两组IKZF3基因SNP位点rs2952144与rs4795395基因型基因频率分布均符合HWE定律,达到遗传平衡;两组IKZF3基因SNP位点rs2952144基因型TT、CT、CC频率分布与等位基因T、C频率分布比较差异有统计学意义(P<0.05),观察组TT、CT基因型及T等位基因比例高于对照组;两组IKZF3基因SNP位点rs4795395基因型TT、TA、AA频率分布及等位基因T、A频率分布比较差异无统计学意义;IKZF3基因SNP位点rs2952144基因型及等位基因分布情况与ALL具有一定相关性(P<0.05),IKZF3基因SNP位点rs4795395基因型及等位基因分布情况与ALL无相关性。结论IKZF3基因SNP位点rs2952144基因型及等位基因分布情况与儿童ALL发病情况具有相关性,位点rs2952144中TT与CT基因型增加、等位基因T占比上升会增加儿童患ALL疾病风险。Objective To investigate the correlation between single nucleotide polymorphism(SNP)of IKZF3 gene and childhood acute lymphoblastic leukemia(ALL).Methods 78 children who were treated in our hospital and Guangdong Maternal and Child Health Hospital from September 2018 to February 2021 were selected as the observation group,and 80 healthy children who were examined in our hospital at the same time were selected as the control group.Peripheral blood samples of the two groups were collected for genotyping of the SNP loci rs2952144 C>T and rs4795395 T>A of the IKZF3 gene,The genotyping distribution of SNP loci rs2952144 C>T and rs4795395 T>A of IKZF3 gene in two groups were compared and their correlation with ALL were analyzed.Results The distribution of genotypes and gene frequencies of SNP loci rs2952144 and rs4795395 of IKZF3 gene in the two groups conformed to HWE law and reached genetic balance;the frequency distribution of TT,CT and CC genotypes at SNP rs2952144 of IKZF3 gene in the two groups was significantly different from the frequency distribution of T and C alleles(P<0.05).The proportion of TT,CT genotypes and t alleles in the observation group was higher than that in the control group;There was no significant difference in the frequency distribution of TT,TA,AA and allele T,A of rs4795395 genotype between the two groups;The genotype and allele distribution of the SNP site rs2952144 of IKZF3 gene had certain correlation with ALL(P<0.05),but the genotype and allele distribution of the SNP site rs4795395 of IKZF3 gene had no correlation with ALL.Conclusion The genotype and allele distribution of the SNP rs2952144 of IKZF3 gene are related to the incidence of ALL in children.The increase of TT and CT genotypes and the increase of allele t in rs2952144 will increase the risk of ALL in children.

关 键 词：急性淋巴细胞白血病 基因 儿童 IKAROS家族锌指蛋白3 单核苷酸多态性 

分 类 号：R733.71[医药卫生—肿瘤]