摘要
目的 探讨caspase9（CASP9）基因在非小细胞肺癌（non-small cell lung cancer，NSCLC）中的表达及其单核苷酸多态（single nucleotide polymorphism，SNP）位点在非小细胞肺癌患者和正常人中的分布情况。方法 应用逆转录-PCR方法检测了81例NSCLC患者及对应癌旁正常组织中CASP9的表达情况；应用限制性片段长度多态性技术结合测序法，分析81例NSCLC患者及100名正常人CASP9基因2个SNP位点基因型；应用列联表法统计分析患者组和对照组各SNP位点基因型及等位基因频率。结果 44．4％（36／81）的NSCLC组织CASP9基因表达明显下调，与癌旁正常组织相比差异有统计学意义（P〈0．05）。位于CASP9基因第1外显子的SNP位点rs1052571的基因型频率和等位基因频率在两组人群中的分布差异无统计学意义；位于CASP9基因第5外显子的SNP位点rs1052576的基因型频率和等位基因频率在两组人群中的分布差异有统计学意义；患者组G等位基因频率明显高于对照组（P〈0．05）；AG基因型频率在有淋巴结转移的患者中明显高于无淋巴结转移的患者（P〈0．05）。结论 CASP9基因在NSCLC中低表达，rs1052576多态位点G等位基因和肺癌的发生相关。AG基因型和淋巴结转移有关。
Objective To explore the expression of caspase 9 （CASP9） gene in non-small cell lung cancer （NSCLC） and single nucleofide polymorphism （SNP） distribution of CASP9 in NSCLC patients and normal people. Methods Reverse transcfiption-PCR （RT-PCR） was usedto analyze the expression of CASP9 in 81 NSCLC and normal lung tissues. Two SNPs in CASP9 gene were chosen to be investigated. Genotypes of rs1052576 and rs1052571 in 81 NSCLC patients and 100 normal people were analyzed by PCR-restriction fragment length polymorphism （PCR-RFLP）. Legally constituted authority statistical analysis was applied to analyze SNP genotype frequency and allele frequency in patients and control group. Results In comparision with normal lung tissues, CASP9 gene expression was obviously down- regulated in 44.4% （36/81） NSCLC tissues, rs1052571 located in exon 1 of CASP9 gene had no significant difference between two groups, rs1052576 located in exon 5 of CASP9 gene had significant difference between two groups, the G allele frequency in NSCLC patients was higher than those in healthy controls （ P 〈 0.05） ; the AG genotype frequency in patients withlymph node metastasis was higher than those with out lymph node metastasis （ P 〈 0.05）. Conclusion This study confirms the association between CASP9 gene and NSCLC oncogenesis, rs1052576 which locates in exon 5 of CASP9 gene is associated with NSCLC. AG genotype has association with lymph node metastasis.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2007年第1期59-62,共4页
Chinese Journal of Medical Genetics
基金
教育部归国启动基金（教外司留[2003]406号）
