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目的 研究 18号染色体短臂的杂合性缺失在膀胱癌发生发展中的作用 ,为早诊及定位克隆相关基因提供资料。方法 利用位于 18q上的 12个多态性微卫星位点进行缺失做图 ,并对此区域的抑癌基因Smad 2和Smad 4进行免疫组织化学分析。结果 84 2 % (32 / 38)的病例至少在 12个位点中的一个发生杂合性缺失 ,最小缺失区域跨越Smad 4基因。免疫组化结果显示 :Smad 2蛋白有2 1 1% (8/ 38)表达上调 ,34 2 % (13/ 38)表达下调 ;Smad 4蛋白有 6 8 4% (2 6 / 38)表达下调而仅 1例表达上调。结论 18号染色体短臂的缺失与膀胱癌变相关。位于 18号染色体短臂的两个候选抑癌基因Smad 2和Smad 4的异常表达 ,对于膀胱癌的发生、发展可能有着重要作用。
Objective To investigate the role of heterozygosity deletion in the short arm of chromosome 18 in the genesis and development of bladder cancer and to provide information for early diagnosis and related gene mapping. Methods The 12 polymorphic microsatellite loci located on 18q were used for the deletion mapping. Immunohistochemical analysis was performed on the tumor suppressor genes Smad 2 and Smad 4 in this region. Results In 84 2% (32 of 38) cases, heterozygous deletion occurred in at least one of the 12 loci, and the smallest deletion region crossed the Smad 4 gene. The results of immunohistochemistry showed that Smad 2 protein was up-regulated in 21 1% (8/38) and down-regulated in 34 2% (13/38), while Smad 4 protein was down-regulated in 68% (26/38) Only 1 case was up-regulated. Conclusion The deletion of short arm on chromosome 18 is associated with bladder cancer. Abnormal expression of two candidate tumor suppressor genes Smad 2 and Smad 4 on the short arm of chromosome 18 may play an important role in the occurrence and development of bladder cancer.