Objective By exploring the relationship between the gene polymorphism of tumor related gene CD44 and the occurrence of breast cancer,the pathogenic gene or genetic predisposing gene of breast cancer was studied so as to provide theoretical basis and technical support for the screening,diagnosis and treatment of breast cancer.Methods Samples from 265 cases of breast cancer and 290 healthy female were collected. Multiple polymerase chain reaction (PCR) amplification and two generation sequencing were used to analyze the genetic polymorphism of 4 loci of CD44 rs11607862,rs13347,rs7116432 and rs8193.T he size and metasta-sis of 235 patients were compared.Results There was no significant difference in the expression of four sitesloci in breast cancer patients.However,in the analysis of cancer patients,the GG genotype of rs13347 lo-cus was lower than that of CC/CG type,and the lymph node metastasis rate was lower.Conclusion There is a certain correlation between the rs13347 loci of CD44 and the metastasis of breast cancer.The correlation be-tween the genetic polymorphisms of 3 loci of rs11607862,rs7116432 and rs8193 and the development of breast cancer needs more clinical samples and further research.%目的 通过探讨肿瘤相关基因CD44的基因多态性与乳腺癌发生的关系,发现乳腺癌致病基因或者遗传易感基因,为乳腺癌的基因筛查、诊断、治疗提供理论依据和技术支持.方法 收集乳腺癌患者265例及健康女性样本290例,使用多重聚合酶链反应(PCR)扩增和二代测序技术对CD44 rs11607862、rs13347、rs7116432、rs8193等4个位点进行基因多态性分析.对其中235例患者的肿瘤大小、是否转移进行结果比较.结果 未发现该4个位点在乳腺癌患者中的表达与健康人有显著差异.但是在对肿瘤患者的分析中发现, rs13347位点GG基因型患者较CC/CG型患者,淋巴结转移率更低.结论 CD44的rs13347位点与乳腺癌的转移有一定相关性,rs11607862、rs7116432、rs8193等3个位点基因多态性与乳腺癌的发生、发展相关度还需要更多的临床样本及资料进一步研究.
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