本文關鍵詞： LNK基因 單核苷酸多態(tài)性 基因突變 慢性髓系白血病　出處：《中國實驗血液學雜志》2017年03期 　論文類型：期刊論文

【摘要】：目的:比較慢性髓系白血病(CML)患者組與對照組的LNK基因突變及單核苷酸多態(tài)性(SNP),探討LNK基因變異與CML發(fā)生的關系。方法:選取36例CML患者和46例健康對照者。提取骨髓和外周血DNA,用Q-PCR檢測BCR/ABL1融合基因,用PCR擴增LNK基因外顯子全長;擴增序列中包括了LNK基因內(nèi)影響氨基酸表達的Rs3184504(C/T)和Rs78894077(A/C/G/T),以及對氨基酸表達無影響的Rs7973120(A/T)的3個SNP位點。測序分析LNK基因突變及單核苷酸多態(tài)性。結果:36例CML患者均有BCR/ABL1突變,對照組無突變;1例CML患者有LNK雜合子突變,位點為A300V,突變率2.8%,對照組無突變。Rs3184504:對照組C/T等位基因頻率為50%/50%,CML組為94.4%/5.6%,CML組C等位基因明顯高于對照組,其中CC基因型占94.4%(P0.01);Rs78894077:對照組C/T等位基因為9.8%/90.2%,CML組16.7%/83.3%,差異無統(tǒng)計學意義(P0.05),但CML組CC基因型高于對照組,差異有統(tǒng)計學意義(P0.01);Rs7973120:對照組A/T等位基因頻率為10.9%/89.1%,CML組為25%/75%,CML組A等位基因高于對照組(P0.01)。結論:CML患者中有LNK突變,LNK單核苷酸多態(tài)性與CML的發(fā)生相關,CML患者多攜帶有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.
【作者單位】： 遵義醫(yī)學院附屬醫(yī)院小兒內(nèi)二科;北京大學第一醫(yī)院血液科;
【基金】：國家自然科學基金(81370612);國家自然科學基金應急管理項目(81641008)
【分類號】：R733.72

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