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目的探讨人类白细胞抗原(HLA)基因多态性与新生儿溶血病(HDN)的相关性。方法对117例HDN患者和112例非新生儿溶血病(NHDN)标本,采用PCR-SSO方法对HLA-A/B/C/DRB1/DQB1位点进行基因分型,研究其基因频率及疾病发生相对危险度(RR)。结果 HDN患者中HLA-DQB1*03∶01、HLA-DRB1*12∶02的基因频率较NHDN显著性升高(P<0.05),其RR分别为1.721和2.598;扩展单体型A*11∶01-B*13∶01-C*03∶04-DRB1*12∶02-DQB1*03∶01的频率亦有显著性差异(P<0.05);2位点单体型DRB1*12∶02-DQB1*03∶01的频率也存在显著性差异(P<0.05);HLA位点中含有DRB1*12∶02及DQB1*03∶01的HDN患者,其总胆红素升高较不含该基因的患者有显著性差异(P<0.05)。结论 HLA-DQB1*03∶01及HLA-DRB1*12∶02与HDN的发生呈正相关,可能是其易感基因。
Objective To investigate the association between human leukocyte antigen (HLA) gene polymorphism and neonatal hemolytic disease (HDN). Methods The genotypes of HLA-A / B / C / DRB1 / DQB1 loci were genotyped by PCR-SSO in 117 cases of HDN and 112 cases of non-hemolytic disease (NHDN) Relative risk (RR). Results The frequencies of HLA-DQB1 * 03:01 and HLA-DRB1 * 12:02 genes in HDN patients were significantly higher than those in NHDN patients (RR = 1.721 and 2.598, respectively); the haplotype A * (P <0.05). The frequency of haplotype DRB1 * 12:02-DQB1 * 03:01 was also significantly different between the two groups There was also a significant difference in the frequency of DQB1 * 03:01 (P <0.05). HDN patients with HLA DRB1 * 12:02 and DQB1 * 03:01 had higher total bilirubin than those without Of patients had significant difference (P <0.05). Conclusion HLA-DQB1 * 03:01 and HLA-DRB1 * 12:02 are positively correlated with the occurrence of HDN, which may be the susceptibility genes.