本文選題：免疫相關(guān)血細(xì)胞減少癥 + 線粒體DNA(mtDNA)��； 參考：《中國實(shí)驗(yàn)血液學(xué)雜志》2017年01期

【摘要】：目的:研究免疫相關(guān)性血細(xì)胞減少癥(IRP)患者外周血淋巴細(xì)胞線粒體DNA(mtDNA)D-LOOP區(qū)多態(tài)性的意義及其與免疫指標(biāo)的相關(guān)性。方法:提取43例初治IRP患者外周血淋巴細(xì)胞mtDNA,對(duì)其D-LOOP區(qū)序列進(jìn)行PCR擴(kuò)增,通過正反向直接測序法對(duì)PCR擴(kuò)增產(chǎn)物基因序列進(jìn)行檢測,將檢測結(jié)果與人線粒體DNA文庫記錄的劍橋序列以及mtDB數(shù)據(jù)庫的Polmorphic Sites子數(shù)據(jù)庫的相關(guān)數(shù)據(jù)庫進(jìn)行對(duì)比。結(jié)果:43例IRP患者的外周血淋巴細(xì)胞mtDNA D-LOOP區(qū)中共有110個(gè)變異位點(diǎn),其中62個(gè)為多態(tài)位點(diǎn)(SNP),48個(gè)為突變位點(diǎn),其中14個(gè)位點(diǎn)為數(shù)據(jù)庫中未提及的新突變位點(diǎn)。在110個(gè)變異位點(diǎn)中共發(fā)現(xiàn)516個(gè)堿基改變,最主要的改變是410個(gè)堿基置換,常見的堿基置換為T/C(184/410)和A/G(113/410);110個(gè)變異位點(diǎn)中高頻變異位點(diǎn)73和263,其變異率為43/43,位點(diǎn)311的變異率為32/43,位點(diǎn)310和16 224的變異率為27/43,16 519的變異率為25/43,位點(diǎn)489和16 362為24/43。對(duì)IRP患者外周血淋巴細(xì)胞mtDNA D-LOOP區(qū)多態(tài)性與患者骨髓單個(gè)核細(xì)胞的相關(guān)性統(tǒng)計(jì)發(fā)現(xiàn),以年齡18歲為界的35例成年組中淋巴細(xì)胞mtDNA D-LOOP區(qū)多態(tài)性與患者骨髓單個(gè)核細(xì)胞的CD15 IgM、GLYCoA~+細(xì)胞IgM、CD34~+細(xì)胞IgG、CD34~+細(xì)胞IgM存在顯著相關(guān)性。結(jié)論:IRP患者外周血淋巴細(xì)胞的mtDNA D-LOOP區(qū)存在高頻突變,且在成年組(年齡≥18歲)中與骨髓單個(gè)核細(xì)胞膜結(jié)合自身抗體顯著相關(guān),這可能是免疫相關(guān)性血細(xì)胞減少癥發(fā)病機(jī)制中的重要環(huán)節(jié)。
[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，

本文編號(hào)：1902809