Bcl-2基因多态性与乳腺癌临床生物学指标的关系

目的:探讨凋亡基因Bcl-2启动子区C(-938)A单核苷酸多态性(snigle nucleotide polymorphism,SNP)与河北省乳腺癌患者临床生物学指标的关系.方法:采用聚合酶链反应-限制性酶切片段长度多态性分析(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)方法检测113例乳腺癌患者Bcl-2基因 C(-938)A SNP的3个基因型(即AA、AC和CC),并与临床生物学指标相关联,比较各组间基因型频率的分布情况.结果: 按腋淋巴结转移个数进行分层分析,AA型和AC+CC型在无转移、1～3个转移、≥4个转移组中分别占26.8%、47.8%、52.6%和73.2%、52.2%、47.4%,两组比较差异有统计学意义(χ~2=6.337,P=0.042);与AC+CC型相比,AA型在≥4个转移组OR值为3.041(95%CI:1.072～8.626).在组织学分级中,AA型和AC+CC型在Ⅰ～Ⅱ级、Ⅲ级中分别占30.9%、57.9%和69.1%、42.1%,两组基因型分布差异有统计学意义(χ~2=5.055,P=0.025);与AC+CC型相比,AA型在肿瘤分化Ⅲ级组中OR值为3.082(95%CI:1.122～8.465).按雌激素受体(estrogen receptor,ER)、孕激素受体(progesterone receptor,PR)和C-erbB2蛋白表达水平进行分层分析,发现AA型和AC+CC型的上述指标分布差异无统计学意义(χ~2=3.005, χ~2=1.504, χ~2=1.163;P >0.05).结论:乳腺癌患者Bcl-2基因C(-938)A SNP的AA基因型与其腋淋巴结转移率较高和肿瘤组织分化较差相关.

Correlation of Bcl-2 polymorphism with clinical biological behaviors of breast cancer

Objective:To study the correlation of C(-938)A single nucleotide polymorphism(SNP) in the promoter of anti-apoptosis gene Bcl-2 with the clinical biological parameters of breast cancer patients in Hebei Province.Methods:Three genotypes(AA,AC,CC) of Bcl-2 C(-938)A from 113 samples of breast cancer patients were analyzed by using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method,and the results were associated with clinical biological parameters.The distribution of genotype f...