survivin基因A9194G位点多态性在新疆维吾尔族、哈萨克族、汉族食管癌中的分布及其意义

目的探讨survivin基因A9194G位点在新疆维吾尔族（维族），哈萨克族（哈族）及汉族食管癌人群中的分布及与正常人群的分布差异。方法采用聚合酶链反应一限制性片段长度多态技术（PCR—RFLP）及测序方法检测survivin基因A9194G位点在维、哈、汉3个民族食管癌患者肿瘤组织和正常组织（每个民族各30例）的分布情况。结果3个民族食管癌肿瘤组织中A、G基因频率分布和基因频率分布差异无统计学意义。基因型（AA、AG、GG）在3个民族肿瘤组织和正常组织的分布无统计学差异；与正常人群比较，哈萨克族食管癌肿瘤患者A9194G位点存在A—G的突变，差异具有统计学意义。结论survivin基因A9194G位点多态性在哈萨克族食管癌患者和哈萨克族正常人群中存在差异，提示该位点的变异可能与哈萨克族食管癌中survivin的异常表达相关。

The distribution and significance of survivin A9194G in esophageal cancer with Xinjiang Uygur, Hazaks and Han patients

Objectives To investigate the distribution of survivin A9194G in esophageal cancer with Xin- jiang Uygur, Hazaks and Han patients and compare it with normal population. Methods To detect the distribution of A9194G in 90 cases （XJEDU2010S29） 30 cases for each ethnic group） by using PCR-RFLP and sequencing. Results There was no statistical difference of gene frequency and genotype in three ethnic groups; Genotype （AA, AG, GG） had no statistical difference between cancer tissue and normal tissue in three ethnic groups; There was statistical difference of genotype between Hazaksr esophageal cancer tissue and that of Hazaks＇ normal population. Conclusion The distribution of survivin A9194G had statistical difference between Hazaksr esophageal cancer patients and normal population, which suggested that varia- tion of the locus may correlate with the abnormal expression of survivin in Hazaks＇ esophageal cancer.