【摘要】 目的探讨散发性乳腺癌患者BRCA1及BRCA2基因突变与健康人的差异。方法应用聚合酶链反应-单链构象多态性(PCR-SSCP)分析方法,对83例散发性乳腺癌患者(乳腺癌组)与86例健康人(健康对照组)的血液标本,针对BRCA1和BRCA2基因,选择4个突变发生率较高的外显子[BRCA1中的第5、11(11A、11B)、18外显子,BRCA2中的第11外显子]共5对引物进行突变检测,并应用限制性片段长度多态性(RFLP)方法对具有单核苷酸多态的碱基位点作单核苷酸多态性定性分析。成组设计的定性资料比较采用χ2检验。结果部分散发性乳腺癌患者和健康人BRCA1基因第5外显子的cDNA273和287(C→G和A→T),第11外显子的2430、2532、2630、2685、3191、3232和3667、3876(T→C、T→C、T→G、T→C、C→G、A→G、A→G和C→A)以及第18外显子的5206和5214(T→A和C→T)碱基位点处存在单个碱基的变化,散发性乳腺癌患者的BRCA1基因突变率高于健康人(14.5%比2.3%,P<0.05);应用RFLP方法证实cDNA2430、2630(T→C、T→G)碱基位点的变化为单核苷酸多态(SNP);散发性乳腺癌患者与健康人2430(T→C)碱基位点等位基因频数分布不相同,但差异无统计学意义(P>0.05)。结论散发性乳腺癌患者BRCA1基因突变较常见,而BRCA2的突变十分罕见。更多还原

【Abstract】 Objective To explore the mutations of BRCA1 and BRCA2 genes in sporadic breast cancer patients and their differences between breast cancer patients and healthy people.Methods Single strand conformation polymorphism (PCR-SSCP) was used to detect mutations of BRCA1(exons 5,11(11A and 11B) and 18) and BRCA2 (exon 11) genes in the blood samples from 83 sporadic breast cancer patients and 86 healthy people (as the normal control). RFLP (restriction fragment length polymorphism) was used for quantitative analysis of single nucleotide polymorphism for the basic site with single nucleotide polymorphism. Chi-squear test was used for qualitation data comparison.Results Single base changes on the base site of BRCA1 exons 5 [cDNA 273 and 287(C→G and A→T)],11[(2430,2532,2630,2685,3191,3232 and 3667,3876(T→C,T→C,T→G,T→C,C→G,A→G,A→G and C→A)],and 18 [5206 and 5214(T→A and C→T)] were found in some sporadic breast cancer patients and normal controls.The rate of BRCA1 gene mutation in the sporadic breast cancer patients was higer than in the normal controls (14.5% vs 2.3%,P<0.05). RFLP showed that base site changes [cDNA 2430,2630(T→C,T→G)] was SNP; the distribution of the base site [2430 (T→C)] allele frequency was different between the sporadic breast cancer patients and the normal controls,but without statistical significance (P>0.05).Conclusions BRCA1 gene mutation occurs more often in sporadic breast cancer,but BRCA2 gene mutation seldom happens.更多还原