摘要
目的通过突变分析,探讨拮抗凋亡转录因子(AATF)与乳腺癌遗传易感性之间可能存在的关联。方法使用构象敏感凝胶电泳(CSGE)和直接测序技术对89例收治的家族性乳腺癌患者完整的AATF基因编码区进行分析。以210例匿名的非癌症患者血样作为对照,对突变频率进行评估。结果共发现7个变异位点,其中6个位于内含子,另外1个为位于外显子的错义突变,对它们在患者和健康对照个体中出现的频率进行比较,未发现致病性倾向。结论本研究89例家族性乳腺癌患者AATF基因的突变分析结果未能提供充分证据表明它们与乳腺癌遗传易感性之间存在关联。
Objective Many previously identified breast cancer predisposition factors are involved in the mainte- nance of genomic integrity. Based on the biological function of AATF on the regulation of gene transcription and cell prolif- eration and its direct interaction with several known breast cancer risk factors, this paper studied its probable correlation with breast cancer susceptibility. Methods The entire coding region of AATF in 89 cases were analyzed using CSGE and direct sequencing. Results One missense variant and six introns were revealed. But the comparison of their occurrence in cases and controls did not illustrate the pathogenicity. Conclusion The above mutation analysis afford no apparent evidence for the association between AATF gene and breast cancer.
出处
《广东医学》
CAS
CSCD
北大核心
2013年第8期1176-1178,共3页
Guangdong Medical Journal
基金
广东省科技计划项目(编号:2009B030801188)
