摘要目的 探讨杀伤细胞免疫球蛋白样受体(killer cell immunoglobin-like receptor,KIR)基因多态性与骨髓衰竭性疾病(bone marrow failure syndromes,BMFS)的相关性.方法 采用序列特异性引物聚合酶链反应(sequence specific primer-polymerase chain reaction,SSP-PCR)的方法,对40例骨髓增生异常综合征(myelodysplatic syndrome,MDS)和20例再生障碍性贫血(aplastic anemia,AA)患者以及60例健康对照者的KIR基因进行检测,分析KIR基因与这些疾病发生的遗传学相关性.结果 在对照组及患者组分别检出目前已知的全部16个KIR基因.MDS和AA患者组较健康对照组有多种激活性KIR基因(2DS1、2DS2、2DS3、2DS5及3DS1)频率增加.2DS5的基因频率在AA患者组较MDS组明显减少.结论 骨髓衰竭性疾病患者多种激活性KIR基因频率的增加提示其疾病的发生机制与遗传背景所致的异常免疫因素有一定相关性.

abstractsObjective To investigate the correlation of killer immunoglobulin-like receptors(KIR)gene polymorphism with bone marrow failure syndromes(BMFS). Methods SSP-PCR was used to examine the genotypic makeup of KIR in patients with aplastic anemia( AA), myelodysplatic syndrome (MDS) and healthy controls in our department. Results All the 16 KIR genes which had been prescribed were identified. The frequencies of KIR-2DS1, 2DS2, 2DS3, 2DS5 and 3DS1 genes were showed increased in patients with AA, MDS than in healthy controls. The patients with AA had lower frequency of KIR-2DS5 than the patients with MDS. Conclusion The increased frequencies of these activated KiRs in patients with MDS and AA suggest that the abnormal immunogenetic might be related to the pathogenesis of BMFS.