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目的探讨阵发性睡眠性血红蛋白尿(PNH)和人类主要组织相容性复合体(HLA-A*)基因易感的分子机制。旨在研究此基因多态性在PNH发病机制中的作用。方法采用序列特异性引物聚合酶链反应(PCR-SSP)技术,分别检测单个核细胞中的采用聚合酶链式反应和顺序特异性引物(PCR-SSP)基因分析方法,对31PNH患者及29例无血缘关系的健康人的HLA-A*各等位基因及亚基因进行了检测分析,并将该方法与其它检测HLA等位基因的方法进行对比。结果HLA-A*03基因与PNH组呈正相关(RR=4.697,P<0.05),其它HLA-A*各等位基因未见异常,均无统计学差异。结沦本项研究结果提示,HLA-A*03基因可能是北方汉族人PNH的致病易感基因之一,为揭示PNH的发病机制中免疫遗传学所起的作用提供了重要信息和依据。尽管目前HLA基因分型方法已有多种,但本文所采用的方法(PCR-SSP)具有快速、简便、敏感、准确和可靠等优点,值得推广应用。
Objective To investigate the molecular mechanism of paroxysmal nocturnal hemoglobinuria (PNH) and human major histocompatibility complex (HLA-A *) gene susceptibility. To study the role of this gene polymorphism in the pathogenesis of PNH. Methods Polymerase chain reaction (PCR) and sequencing specific primers (PCR-SSP) were used to detect the expression levels of 31PNH in patients and 29 HLA-A * alleles and subgenes of healthy unrelated healthy people were detected and analyzed, and compared with other methods to detect HLA alleles. Results There was a positive correlation between HLA-A * 03 gene and PNH (RR = 4.697, P <0.05). There was no significant difference among the other HLA-A * alleles. Conclusion The results of this study suggest that HLA-A * 03 gene may be one of the pathogenic susceptibility genes of PNH in northern Han people, which provided important information and basis for revealing the role of immune genetics in the pathogenesis of PNH. Although there are many methods for HLA genotyping, the method (PCR-SSP) used in this paper is rapid, simple, sensitive, accurate and reliable. It is worth popularizing and applying.