Liu Jun-Qing, Yang Lin-Hua, Chen Xiu-Hua, Tan Yan-Hong, Liu Xiu-E, Chen Jian-Fang, Chang Li-Xian, Gao Yan
Department of Hematology, Shanxi Medical University Second Hospital, Taiyuan 030001, Shanxi Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2010 Jun;18(3):690-3.
The study was aimed to examine the B cell activating factor promoter polymorphism of the TNF family (BAFF)-871 C/T in patients with immune thrombocytopenic purpura (ITP) and to explore its correlation with ITP and the relationship between the blood platelet count of newly diagnosed patients with ITP and genotypes of BAFF-871 C/T polymorphisms. Alleles specific polymerase chain reaction (ASP-PCR) and agarose gel electrophoresis were used to identify polymorphisms -871 C/T of BAFF promotor in 133 ITP patients and 117 healthy controls, and determine the genotype of subjects. Meantime, the frequency of genotype and alleles were analyzed. The results indicated that out of 133 patients with ITP, 33.1% patients exhibited C/C, 42.1% patients were heterozygous C/T, and 24.8% patients were homozygous T/T. The corresponding frequencies in 117 healthy controls were 55.6% C/C, 33.3% C/T and 11.1% T/T. The allele frequency of T in ITP patients and healthy controls were 45.9% and 27.4% respectively. There was significant difference in the BAFF-871 C/T genotypic frequency between the ITP patients and healthy controls (p < 0.05). The allele frequency of T in ITP patients was higher than that in healthy controls. There was no significant difference in the blood platelet counts between the various genotype (p > 0.05). It is concluded that the polymorphism -871 C/T of BAFF promoter is correlated with the pathogenesis of ITP. However, there is no significant difference in blood platelet counts between the various genotype, so the polymorphism -871 C/T of BAFF promoter can not be referred as the analysis index for evaluating the severity of ITP.
本研究旨在检测免疫性血小板减少性紫癜(ITP)患者肿瘤坏死因子家族B细胞活化因子启动子多态性(BAFF)-871 C/T,并探讨其与ITP的相关性以及初诊ITP患者血小板计数与BAFF-871 C/T多态性基因型的关系。采用等位基因特异性聚合酶链反应(ASP-PCR)和琼脂糖凝胶电泳法对133例ITP患者和117例健康对照者的BAFF启动子-871 C/T多态性进行鉴定,并确定受试者的基因型。同时,分析基因型和等位基因频率。结果显示,133例ITP患者中,33.1%为C/C型,42.1%为杂合子C/T型,24.8%为纯合子T/T型。117例健康对照者中相应频率分别为55.6% C/C、33.3% C/T和11.1% T/T。ITP患者和健康对照者中T等位基因频率分别为45.9%和27.4%。ITP患者与健康对照者之间BAFF-871 C/T基因型频率存在显著差异(p < 0.05)。ITP患者中T等位基因频率高于健康对照者。各基因型之间血小板计数无显著差异(p > 0.05)。结论:BAFF启动子-871 C/T多态性与ITP发病机制相关。然而,各基因型之间血小板计数无显著差异,因此BAFF启动子-871 C/T多态性不能作为评估ITP严重程度的分析指标。