LNK基因单核苷酸多态性与急性白血病易感性研究  

LNK Gene Single Nucleotide Polymorphisms and Acute Leukemia Susceptibility

作　　者：吴柳松[1] 韩春生[2] 谭梅[1] 朱平[3] 卜方定 张英[3] 陈艳[1] 伍学强[4] 

机构地区：[1]遵义医学院附属医院小儿内二科,贵州遵义563000 [2]郑州市第一人民医院肿瘤血液科,河南郑州450000 [3]北京大学第一医院血液科,北京100034 [4]北京航天总医院血液肿瘤研究所,北京100076

出　　处：《中国实验血液学杂志》2016年第5期1305-1311,共7页Journal of Experimental Hematology

基　　金：国家自然科学基金面上项目(81370612);贵州省科技厅联合基金重点项目(黔科合J字LKZ[2013]15号)

摘　　要：目的:探讨JAK-STAT信号通路的负调控基因LNK(SH2B3)单核苷酸多态性(SNP)与急性白血病易感性的关系。方法:收集31例急性淋巴细胞白血病(ALL)患者、70例急性髓性白血病(AML)患者以及130例健康对照者的骨髓及外周血标本,采用聚合酶链反应-限制性片段长度多态性技术检测LNK Rs3184504(c.784T>C)与Rs78894077(c.724C>T)单核苷酸多态位点的分布情况,并用凝胶电泳和测序验证。培养NB4、THP-1、Raji等白血病细胞株模型,直接测序分析各白血病细胞株Rs3184504与Rs78894077位点多态性情况。结果:Rs3184504位点的CC基因型在急性白血病组中明显高于正常对照组(P<0.01),AML组和ALL组之间无差异。Rs3184504C等位基因在急性白血病中明显高于正常对照组(P<0.01)。LNK基因Rs78894077位点的基因型在急性白血病组和正常对照组中无显著性差异(P>0.05)。NB4细胞、THP-1细胞、Raji细胞Rs3184504和Rs78894077位点均为CC基因型。结论:携带LNK基因Rs3184504 C等位基因型位点者更易于发生急性白血病。Objective：To investigate the relationship between the LNK（SH2B3） gene single nucleotide polymorphism and risk of acute leukemia（AL） in Chinese population.Methods：The bone marrow and peripheral blood samples from31 cases of acute lymphoblastic leukemia,70 cases of acute myeloid leukemia and 130 healthy persons as the controls were collected.Genotype of LNK SNP Rs3184504（c.784 T 〉 C） and Rs78894077（c.724 C 〉 T） were determined by PCR-RFLP,and were confirmed by gel electrophoresis and sequencing.The NB4,THP-1 and Raji leukemia cell line models were cultured,the leukemia cell line LNK Rs3184504 and Rs78894077 polymorphism were detected by using direct sequencing.Results：The CC genotype frequencies of Rs3184504 SNP were higher in ALL and AML patients than those in control（P〈0.01）,but there was no different between the groups in AML and ALL.The frequency of LNK gene Rs3184504 C allele was higher in AL as compared with control（P〈0.01）.The LNK gene Rs78894077 locus genotype distribution was not significantly different between the AL and the normal control group（P 〉0.05）.Both Rs3184504 and Rs78894077 sites were detected as CC genotype in NB4,THP4 and Raji cells.Conclusion：The persons carrying C allele of LNK gene Rs3184504 are more prone to develop acute leukemia.

关 键 词：LNK基因 单核苷酸多态性 急性白血病 

分 类 号：R733.71[医药卫生—肿瘤]