视网膜母细胞瘤蛋白磷酸激酶2A亚基外显子基因突变的研究

Investigation on the mutation of PPP2R3A exons in retinoblastoma

目的:探讨蛋白磷酸激酶2A亚基(PPP2R3A)基因外显子序列突变与视网膜母细胞瘤(retinoblastoma,RB)的关系。方法:选择视网膜母细胞瘤患者15例(病例组)及正常的对照30例(对照组),以病理蜡块组织和外周血基因组为模板,通过聚合酶链反应(polymerase Chain Reaction,PCR)扩增PPP2R3A基因的外显子,并将PCR产物纯化后测序。测序结果与GenBank公布的PPP2R3A基因正常序列进行比对。结果:病例组在PPP2R3A基因的1001bp外显子序列中发现两个单核苷酸多态性(SNPs),即rs34629706和rs144802055。rs34629706亦在对照组中出现。rs144802055仅出现于病例组中。结论:PPP2R3A基因SNPs位点rs34629706与RB的发病无关。rs144802055位点与RB的关系有待进一步探讨。

AIM： To explore the association of the mutation in PPP2R3A exons and retinoblastoma. ＊ METHODS： Hospital- based case control study was taken. Retinoblastoma patients （15 cases, as case group） and matched controls （30 controls, as control group） were recruited in this study. Genomic DNA obtained from formalin fixed paraffin embedded （FFPE） and peripheral blood were used as template. PPP2R3A gene exon sequences were detected by PCR-sequencing. Homology analysis was performed using blastn in GenBank. RESULTS： Analyzing PPP2R3A DNA sequences （1001bp） from 15 cases, two reported SNPs had been detected, including rs34629706 and rs144802055. Rs34629706 also occurred in the control group. Rs144802055 appeared only in the case group. CONCLUSION： PPP2R3A gene SNPs of rs34629706 is unrelated to the incidence of retinoblastoma. Relations between rs144802055 and RB needs to be further explored.