DNA修复基因在年龄相关性白内障患者晶状体皮质中表达的研究

Expression of DNA repair genes in lens cortex of age-related cataract

目的研究DNA修复基因在年龄相关性白内障（age-related cataract,ARC）患者晶状体皮质和正常对照晶状体皮质之间的表达差异。方法使用TaqMan~人类DNA修复基因表达芯片板检测年龄和性别匹配的3例ARC患者和3例正常对照晶状体皮质组织中DNA修复基因的表达。表达差异在1.5倍以上的基因使用实时荧光定量聚合酶链式反应（real-time PCR）进行验证（30例ARC患者和30例正常对照）。数据使用SPSS 17.0软件进行分析,ARC患者与正常对照间数据的比较采用独立样本t检验。结果 TaqMan人类DNA修复基因表达芯片板检测显示：相对于正常对照晶状体皮质,在ARC患者晶状体皮质中有7个DNA修复基因（ATM、ERCC6、POLA1、POLD1、POLQ、PSMB8、CCNO）表达下调1.5倍以上（0.35±0.07、0.26±0.09、0.41±0.07、0.37±0.14、0.37±0.07、0.15±0.05、0.57±0.13）,差异均有统计学意义（t=8.98,P=0.01;t=4.71,P=0.04;t=10.42,P=0.01;t=4.65,P=0.04;t=8.92,P=0.01;t=4.94,P=0.04;t=7.63,P=0.02）,4个基因（CHEK2、ERCC1、FANCE、GADD45G）表达上调1.5倍以上（2.58±0.25、1.95±0.09、8.82±0.78、3.18±0.89）,差异均有统计学意义（t=18.18,P=0.00;t=20.92,P=0.01;t=19.55,P=0.01;t=6.20,P=0.02）。real-time PCR的验证结果与其一致。结论 ARC患者晶状体皮质和正常对照晶状体皮质中部分DNA修复基因的表达存在差异,这些表达有差异的基因可能在ARC的形成和发展中起到一定作用。

Objective To examine the diffidence expression of DNA repair genes between lens cortex of age-related cataract（ ARC） and controls. Methods Thirty-three ARC patients and thirty-three controls were included in this study. Human DNA Repair Mechanism TaqManarrays plates were used to examine the DNA repair genes in lens cortex of ARC and controls（ three ARC patients and three controls）. Then the real-time PCR was used to confirm the diffidence expression of genes identified by the arrays plates（ thirty ARC patients and thirty controls）. Results In lens cortex of ARC,7 genes（ ATM,ERCC6,POLA1,POLD1,POLQ,PSMB8,CCNO） had significantly 1. 5 folds lower expression levels（ 0. 35 ± 0. 07,0. 26 ± 0. 09,0. 41 ± 0. 07,0. 37 ± 0. 14,0. 37 ± 0. 07,0. 15 ± 0. 05,0. 57 ± 0. 13） in the ARC group compared with the control group（ t = 8. 98,P = 0. 01; t = 4. 71,P = 0. 04; t = 10. 42,P = 0. 01; t = 4. 65,P= 0. 04; t = 8. 92,P = 0. 01; t = 4. 94,P = 0. 04; t = 7. 63,P = 0. 02） and 4 genes（ CHEK2,ERCC1,FANCE,GADD45G） had significantly 1. 5 folds higher expression levels（ 2. 58 ± 0. 25,1. 95 ± 0. 09,8. 82 ± 0. 78,3. 18 ± 0. 89）（ t = 18. 18,P = 0. 00; t = 20. 92,P = 0. 01; t = 19. 55,P= 0. 01; t = 6. 20,P = 0. 02）. The results of real-time PCR were consistent with data of arrays plates. Conclusion There are different expressions of some DNA repair genes between lens cortex of ARC and normal controls. The data may provide evidence that altered expression of DNA repair genes is associated with pathogenesis of ARC.