肿瘤转移抑制基因KAI1/CD82第8内含子剪接区域多态与乳腺癌发病及转移的相关性

Polymorphisms in Splicing Regulation Region of Metastasis Suppressor Gene KAI1/CD82 and Breast Cancer

目的探讨肿瘤转移抑制基因KAI1/CD82第8内含子IVS(8)6C11A/6T11G多态与乳腺癌发病及转移的相关性。方法提取135例健康人、109例乳腺癌患者的外周血DNA,收集其相应的临床及病理资料,应用PCR-DHPLC和DNA序列分析和病例对照分组研究统计分析KAI1基因第8内含子剪接区域多态与乳腺癌发病及转移的相关关性。结果 KAI1/CD82基因IVS(8)6T11G基因型检出率在健康人群中为30.9%,乳腺癌患者中为32.1%,两者差异无统计学意义(P>0.05);在乳腺癌低龄(<50岁)和高龄(≥50岁)患者之间差异无统计学意义(P>0.05),在常见的病理类型,肿瘤大小,病理分级中差异亦无统计学意义(P>0.05),但在有无淋巴结转移之间,两者差异有统计学意义(P<0.05)。结论肿瘤转移抑制基因KAI1/CD82第8内含子剪接区域多态与乳腺癌的发病、病理分化无关,但可能影响肿瘤的淋巴结转移,提示KAI1/CD82基因IVS(8)6C11A/6T11G多态筛查可能成为乳腺癌患者预后风险评估的指标。

Objective To investigate the etiological role of metastasis suppressor gene KAI1/CD82 genetic polymorphisms IVS（8）6C11A /6T11G in breast cancer.Methods A case-control study was taken on subjects included 109 breast cancer patients and 135 healthy individual controls.Genomic DNA was extracted from peripheral white cell of all subjects.The polymorphism was detected by a PCR-based DHPLC analysis and verified by DNA sequencing.Results The mutant allelotype 6T11G was 30.9% in healthy individuals group and was 32.1% in breast cancer group.There was no significant difference between the control group and breast cancer group（P0.05）,The value of 6T11G was not related to the age of the patients,and the histological gype,sive and histologic grading of tumors.Further statistics based on histological type revealed that significant difference existed in lymphatic metastasis（P0.05）.Conclusion The genetic polymorphism IVS（8）6C11A /6T11G in KAI1/CD82 gene may play a role in the lymphatic metastasis of breast cancer.Determination of this polymorphism may be suitable to identify the prognosis of breast cancer patients.