免疫相关性血细胞减少症患者外周血淋巴细胞线粒体DNA D-LOOP区多态性的研究

发布时间：2018-05-17 20:48

  本文选题：免疫相关血细胞减少症 + 线粒体DNA(mtDNA)　； 参考：《中国实验血液学杂志》2017年01期

【摘要】：目的:研究免疫相关性血细胞减少症(IRP)患者外周血淋巴细胞线粒体DNA(mtDNA)D-LOOP区多态性的意义及其与免疫指标的相关性。方法:提取43例初治IRP患者外周血淋巴细胞mtDNA,对其D-LOOP区序列进行PCR扩增,通过正反向直接测序法对PCR扩增产物基因序列进行检测,将检测结果与人线粒体DNA文库记录的剑桥序列以及mtDB数据库的Polmorphic Sites子数据库的相关数据库进行对比。结果:43例IRP患者的外周血淋巴细胞mtDNA D-LOOP区中共有110个变异位点,其中62个为多态位点(SNP),48个为突变位点,其中14个位点为数据库中未提及的新突变位点。在110个变异位点中共发现516个碱基改变,最主要的改变是410个碱基置换,常见的碱基置换为T/C(184/410)和A/G(113/410);110个变异位点中高频变异位点73和263,其变异率为43/43,位点311的变异率为32/43,位点310和16 224的变异率为27/43,16 519的变异率为25/43,位点489和16 362为24/43。对IRP患者外周血淋巴细胞mtDNA D-LOOP区多态性与患者骨髓单个核细胞的相关性统计发现,以年龄18岁为界的35例成年组中淋巴细胞mtDNA D-LOOP区多态性与患者骨髓单个核细胞的CD15 IgM、GLYCoA~+细胞IgM、CD34~+细胞IgG、CD34~+细胞IgM存在显著相关性。结论:IRP患者外周血淋巴细胞的mtDNA D-LOOP区存在高频突变,且在成年组(年龄≥18岁)中与骨髓单个核细胞膜结合自身抗体显著相关,这可能是免疫相关性血细胞减少症发病机制中的重要环节。
[Abstract]:Aim: to study the significance of mitochondrial DNA(mtDNA)D-LOOP polymorphism in peripheral blood lymphocytes in patients with immune-associated hemopenia (IRP) and its correlation with immune indices. Methods: the mtDNA was extracted from peripheral blood lymphocytes of 43 patients with IRP, and its D-LOOP region was amplified by PCR. The gene sequence of PCR amplification product was detected by direct and reverse sequencing. The results were compared with the Cambridge sequence recorded in the mitochondrial DNA library and the Polmorphic Sites subdatabase of the mtDB database. Results there were 110 mutation sites in the mtDNA D-LOOP region of peripheral blood lymphocytes in 43 IRP patients, 62 of them were polymorphic loci and 48 were mutation sites, 14 of which were new mutation sites not mentioned in the database. A total of 516 base changes were found at 110 mutation sites, and 410 base substitutions were the most important changes. The common base substitutions were T / C 1844 / 410) and A / G / 113 / 410; the high frequency mutation sites 73 and 263 of 110 mutation sites were 43 / 43, 311 32 / 43, 310 and 16 224 27 / 43t 16 519 25 / 43, 489 and 16 362 24 / 43. The correlation between the polymorphisms of peripheral blood lymphocytes mtDNA D-LOOP region and bone marrow mononuclear cells in patients with IRP was analyzed. There was a significant correlation between the polymorphism of lymphocyte mtDNA D-LOOP region in 35 adult patients with age of 18 years old and the IgM of CD15 IgMU GLYCoA~ cells in the patients with bone marrow mononuclear cells. Conclusion there is a high frequency mutation in the mtDNA D-LOOP region of peripheral blood lymphocytes in patients with 1% IRP, and there is a significant correlation between the mtDNA D-LOOP region and bone marrow mononuclear cell membrane binding autoantibodies in the adult group (age 鈮，

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