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目的探讨HLA-E基因多态性与白血病的相关性,为白血病的发生发展机制提供新的分子标记。方法提取白血病患者组(n=59)及正常人群(对照)组(n=132)外周血DNA,利用长片段高保真PCR方法做HLA-E全长序列扩增并对HLA-E的第3外显子测序并分型;分别计算2组中各基因型的频率及各等位基因的频率。结果白血病患者组:共检出35例纯合子,检出率59.3%(35/59),其中29例(49.2%)为HLA-E*01:03纯合子、6例(10.2%)为HLA-E*01∶01纯合子;正常对照组:共检出62例纯合子,检出率47.0%(62/132)其中36例(27.3%)为HLA-E*01:03纯合子、26例(19.7%)为HLA-E*01∶01纯合子;白血病患者组和正常对照组HLA-E*01∶03等位基因频率分别为69.5%vs 53.7%(P<0.01),2组HLA-E*01∶03纯合子比例分别为49.2%vs 27.3%(P<0.01,OR=2.1)。结论 HLA-E*01∶03是白血病的易感基因。
Objective To explore the relationship between HLA-E gene polymorphism and leukemia and to provide a new molecular marker for the pathogenesis of leukemia. METHODS: Peripheral blood DNA of patients with leukemia (n = 59) and normal controls (n = 132) was extracted. The full-length HLA-E cDNA was amplified by long- The exons were sequenced and typed. The frequency of each genotype and the frequency of each allele were calculated in two groups. Results 35 cases of leukemia patients were detected: 35 cases homozygotes, the detection rate was 59.3% (35/59), of which 29 cases (49.2%) were HLA-E * 01: 03 homozygotes and 6 cases -E * 01:01 homozygotes; normal control group: a total of 62 homozygotes were detected, the detection rate was 47.0% (62/132) of which 36 cases (27.3%) were HLA-E * 01: 03 homozygotes, 26 The frequency of HLA-E * 01:03 alleles was 69.5% (53.7%) in the leukemia group and the normal control group (19.7%), and the HLA-E * 01:01 homozygotes -E * 01:03 homozygotes were 49.2% vs 27.3% (P <0.01, OR = 2.1). Conclusion HLA-E * 01:03 is a susceptibility gene for leukemia.