中文摘要：

目的探讨重型再生障碍性贫血（SAA）患者CD3＋T细胞端粒长度及端粒结合蛋白（sheherin）基因表达情况。方法收集2011年5月至2012年5月天津医科大学总医院血液科诊断明确的20例SAA患者（初治患者9例，治疗后恢复患者1l例）及10名健康对照的骨髓标本，以免疫磁珠法分选CD3＋T细胞，以Southern印迹法检测端粒长度；荧光定量PCR法检测sheherin核心蛋白：TRF1、TRF2、TPP1、POT1、RAP1、TIN2基因表达情况，并进行临床相关分析。结果SAA患者CD3＋T细胞端粒长度初治组为（4．4±1．1）kb、恢复组为（5．8±1．0）kb，均明显短于对照组l（9．2±3．3）kb，P〈0．05]。且CD3＋T细胞端粒长度与T细胞亚群（T辅助／T抑制）呈显著正相关（r=0．564，P=0．029）。初治组POTl表达水平显著低于恢复组[0．16（0．02～0．29）比1．17（0．82～1．86），P〈0．05]。初治组RAPl表达水平显著高于恢复组和对照组[4．14（1．93～6．92）比0．87（0．30～1．73）和0．62（0．45～4．07），均P〈0．05]。结论SAA患者T细胞存在端粒长度及相关蛋白基因表达异常，且与病情相关。

英文摘要：

Objective To explore the changes in telomere length and gene expression of complex shelterin （composed of 6 core components： TRF1, TRF2, POT1, TIN2, TPP1 and RAPl ） in severe aplastie anemia （SAA）. Methods Bone marrow samples were obtained from 20 SAA patients and l0 normal controls. CD3 ＋T cells were sorted by immunomagnetic separation. Telomere length was tested by Southern blot and the gene expressions of TRF1, TRF2, POTI, TIN2, TPP1 and RAP1 were detected by reverse transcription-PCR（RT-PCR）. Results Telomeres of CD3＋ T cells were found significantly shorter in SAA untreated （ （4.4 ±1.1 ） kb, n = 9 ） and recovering groups （ （ 5.8 ±1.0） kb, n = 11 ） than control group （ （9. 2 ± 3.3 ） kb, P 〈 0. 05 ）. Telomere length of CD3 ＋ T cells shortened with TH/S decreasing （ r = 0. 564, P = 0. 029）. The mRNA expression of POT1 decreased in untreated SAA patients （0. 16 （0. 02 - 0. 29） ）and over-expressed in recovering patients（ 1.17（0. 82 - 1.86） ,P 〈0. 05）. The mRNA expression of RAP1 was significantly higher in untreated patients （4. 14 （1.93 -6. 92））than that in recovering group （0. 87 （0. 30 - 1.73 ） ） and controls （0. 62 （ 0. 45 - 4.07 ）, both P 〈 0. 05 ）. Conclusion Changes in telomere length and shelterin gene expression occur in CD3 ＋ T cells of SAA patients and may be correlated with disease severity.