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目的:检测上海地区早发性乳腺癌患者DBC2基因启动子及第7外显子突变情况,探讨DBC2基因突变与早发性乳腺癌发病风险的关系。方法:提取45例家族史阴性的早发性乳腺癌患者和36名健康志愿者外周血基因组DNA,对DBC2基因启动子、第7外显子及其侧翼部分内含子序列进行PCR扩增,通过直接测序法鉴定DNA突变位点。结果:研究组和对照组均未发现启动子或第7外显子突变;在第7内含子发现IVS7+53C>G突变23例,研究组和对照组DNA的突变率分别为26.67%(12/45)和30.56%(11/36),两者差异无统计学意义,P>0.05。IVS7+53C>G突变患者平均发病年龄为38.33岁,比IVS7+53野生型患者大3.64岁,两者差异有统计学意义,P<0.05。结论:DBC2基因启动子及第7外显子突变可能在上海地区人群中不常见,与早发性乳腺癌发病风险无关。IVS7+53C>G突变是中国人群一种常见多态性,与早发性乳腺癌发病风险关系尚待进一步研究。
Objective: To detect the mutations of DBC2 promoter and exon 7 in patients with early-onset breast cancer in Shanghai and to explore the relationship between the mutations of DBC2 gene and the risk of early-onset breast cancer. METHODS: Peripheral blood genomic DNA was extracted from 45 cases of early-onset breast cancer patients with negative family history and 36 healthy volunteers. The intron sequences of promoter, exon 7 and flanking region of DBC2 gene were amplified by PCR. Identification of DNA mutation sites by direct sequencing. Results: No mutation of promoter or exon 7 was found in the study group and the control group. Twenty-three cases of IVS7 + 53C> G mutation were found in the seventh intron. The mutation rates of DNA in the study group and the control group were 26.67% 12/45) and 30.56% (11/36) respectively. There was no significant difference between the two groups (P> 0.05). The mean age at onset of IVS7 + 53C> G mutation was 38.33 years, which was 3.64 years longer than that of IVS7 + 53 wild type. The difference was statistically significant (P <0.05). Conclusion: The mutations of DBC2 gene promoter and exon 7 may not be common in Shanghai population, and have no correlation with the risk of early-onset breast cancer. IVS7 + 53C> G mutation is a common polymorphism in Chinese population, and the risk of early-onset breast cancer remains to be further studied.