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目的 研究南方假肥大型肌营养不良症 ( duchenne muscular dustrophy,DMD)患者 HLA-A、B、DR基因多态性 ,探讨免疫遗传因素在 DMD发病中的作用 ,并为临床骨髓移植提供基础性资料。方法 采用 PCR反向序列特异性寡核苷酸杂交技术与美国骨髓库编码软件 ( National marrow donorprogram,NMDP) ,对 2 9例 DMD患者 HLA-A、B、DR等位基因多态性进行研究。结果 DMD组 HLA-A2 4等位基因频率 9.0 3 % ,与对照组2 2 .1 6%相比有所降低 ( P =0 .0 1 7) ;DMD组 HLA-B1 3等位基因频率 1 6.95 % ,与对照组 6.75 %相比显著增高( P=0 .0 0 7)。但校正后 P值差异均无显著性 ( P值分别为 0 .2 5 5和 0 .2 3 1 )。结论 DMD患者 HLA-A、B、DR基因表达与正常对照组差异无显著性 ,HLA遗传易感性与 DMD发病无明显相关 ,但尚需要扩大样本量或进行高分辨加深研究。
Objective To investigate the polymorphism of HLA-A, B and DR genes in patients with duchenne muscular dustrophy (DMD) in South China and to explore the role of immune genetic factors in the pathogenesis of DMD and to provide basic information for clinical bone marrow transplantation . Methods Polymorphisms of HLA-A, B and DR alleles in 29 DMD patients were studied by PCR reverse-sequence-specific oligonucleotide hybridization and National Marrow Donor Program (NMDP). Results The frequency of HLA-A2 4 allele in DMD group was 9.0 3%, which was lower than that of control group (P <0.01). The frequency of HLA-B1 3 allele in DMD group was 1 6.95%, which was significantly higher than that of the control group (6.75%) (P = 0.070). However, there was no significant difference in P values after adjustment (P values were 0.255 and 0.331 respectively). Conclusion The expression of HLA-A, B and DR genes in DMD patients was not significantly different from that in normal control subjects. The genetic susceptibility to HLA was not significantly correlated with the incidence of DMD. However, there was still a need to expand the sample size or to further explore the effects of high-resolution reduction.