LNK基因在慢性髓系白血病中的变异

发布时间：2018-02-27 03:13

本文关键词： LNK基因单核苷酸多态性基因突变慢性髓系白血病　出处：《中国实验血液学杂志》2017年03期 　论文类型：期刊论文

【摘要】：目的:比较慢性髓系白血病(CML)患者组与对照组的LNK基因突变及单核苷酸多态性(SNP),探讨LNK基因变异与CML发生的关系。方法:选取36例CML患者和46例健康对照者。提取骨髓和外周血DNA,用Q-PCR检测BCR/ABL1融合基因,用PCR扩增LNK基因外显子全长;扩增序列中包括了LNK基因内影响氨基酸表达的Rs3184504(C/T)和Rs78894077(A/C/G/T),以及对氨基酸表达无影响的Rs7973120(A/T)的3个SNP位点。测序分析LNK基因突变及单核苷酸多态性。结果:36例CML患者均有BCR/ABL1突变,对照组无突变;1例CML患者有LNK杂合子突变,位点为A300V,突变率2.8%,对照组无突变。Rs3184504:对照组C/T等位基因频率为50%/50%,CML组为94.4%/5.6%,CML组C等位基因明显高于对照组,其中CC基因型占94.4%(P0.01);Rs78894077:对照组C/T等位基因为9.8%/90.2%,CML组16.7%/83.3%,差异无统计学意义(P0.05),但CML组CC基因型高于对照组,差异有统计学意义(P0.01);Rs7973120:对照组A/T等位基因频率为10.9%/89.1%,CML组为25%/75%,CML组A等位基因高于对照组(P0.01)。结论:CML患者中有LNK突变,LNK单核苷酸多态性与CML的发生相关,CML患者多携带有LNK Rs3184504 C等位基因及Rs7973120 A等位基因。
[Abstract]:Objective: to compare the LNK gene mutation and single nucleotide polymorphism (SNP) in patients with chronic myeloid leukemia (CML) and control group, and to explore the relationship between LNK gene mutation and CML. Methods: 36 patients with CML and 46 healthy controls were selected. Bone marrow and peripheral blood DNA were taken and Q-PCR was used to detect the fusion gene of BCR/ABL1. The exon length of LNK gene was amplified by PCR. The amplified sequence included three SNP loci of Rs3184504C / T) and Rs78894077A / C / G / T, and three SNP loci of Rs7973120A / T), which had no effect on the expression of amino acids. LNK gene mutations and single nucleotide polymorphisms were analyzed by sequencing. Results BCR/ABL1 mutations were found in 36 CML patients. There was no mutation in LNK heterozygote (A300V) in control group, and the mutation rate was 2.8%. No mutation. Rs3184504 in control group. The C allele frequency in control group was 94.4% / 5.6% higher than that in control group, and the C allele frequency in control group was significantly higher than that in control group (P < 0.05), and the frequency of C / T allele in control group was significantly higher than that in control group (P < 0.05). CC genotype accounted for 94.4% P0.01Rs78894077: the C / T allele of the control group was 9.8R / 90.2C, there was no significant difference between the two groups (P 0.05), but the CC genotype in the CML group was higher than that in the control group (P < 0.05), but the CC genotype in the CML group was higher than that in the control group (P < 0.05). The allele frequency of A / T allele in the control group was 10.9 / 89.1and the allele A in the CML group was higher than that in the control group P0.01.Conclusion LNK mutation LNK single nucleotide polymorphism is associated with the occurrence of LNK Rs3184504 in the patients with CML. C allele and Rs7973120 A allele.
【作者单位】：遵义医学院附属医院小儿内二科;北京大学第一医院血液科;
【基金】：国家自然科学基金(81370612);国家自然科学基金应急管理项目(81641008)
【分类号】：R733.72

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