假肥大型肌营养不良症患者HLA-A、B、DR基因表达研究

Study on HLA-A,B and DR Alleles Expression of DMD Patients

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 analyze the polymorphism of HLA-A, B and DR alleles of DMD Patients in South China. The role of immune and genetic factors in the pathogenesis of DMD was also discussed as well as the background data for the clinical bone marrow transplantation were provided in this paper. Methods Polymerase chain reaction-reverse sequence specific oligonucleotide(PCR-RSSO) and National marrow donorprogram (NMDP) were used to analyze the polymorphism of HLA-A, B and DR alleles of 29 DMD Patients in South China. Results The frequency of HLA-A24 alleles in DMD group was 9.03%, which was lower than that of control group(22.16%, P = 0.017); the frequency of HLA-B13 alleles in DMD group was 16.95%, and was significantlyhigherthanthat of control group(6.75%, P = 0.007). However,there was no striking difference after correction of P value (0.255,0.231 respectively).Conclusions There is no striking difference of HLA-A, B and DR alleles expression between DMD Patients group and control group(normal). More studies have to be made by enlarging the sample size for higher resolution.