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

目的　研究ＤＮＡ修复基因在年龄相关性白内障（ａｇｅ-ｒｅｌａｔｅｄｃａｔａｒａｃｔ，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-ｔｉｍｅＰＣＲ）进行验证（３０例ＡＲＣ患者和３０例正常对照）。数据使用ＳＰＳＳ１７．０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-ｔｉｍｅＰＣＲ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。

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

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 . POLAI , POLDI , 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 . ERCCI . FANCE , GADD45G) had significantly l. 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.