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目的:MBL是补体激活凝集素途径的关键因素。MBL基因多态性影响MBL血清水平。结肠直肠癌患者血清MBL水平升高,低水平的MBL则预示着术后肺炎的发生,目前还不清楚此相关性是否与遗传相关。本实验分析调查了结肠直肠癌患者和健康对照者的MBL基因分型,评估基因分析和复发率、生存率之间潜在的相关性。方法:使用TaqMan基因分型分析法和实时定量PCR分析MBL基因的4个SNP、启动子区2个SNP、非编码区1个SNP;ELISA测定标本血清MBL含量。结果:所有标本中发现了8种不同的MBL单体型,它们在患者和健康者中出现频率几乎是完全一样的;YA/YA基因型与高水平的MBL相关,YO/YO与低水平的MBL水平相关,6种不同基因型CRC患者的MBL水平存在着明显不同。结论:MBL基因型与血清MBL浓度显著相关(P<0.0001);突变型B,C,D和启动子单体型Y,X对MBL含量的影响起主要作用;MBL基因型和术后感染并发症没有明显相关性(P=0.33),与复发癌和存活时间也没有明显相关性(P=0.74)。因此,从基因水平还不能解释为何结肠直肠癌患者血清MBL水平增加。对比已经检测出的血清MBL水平,其基因型还不能预测结肠直肠癌患者的疾病进程。
OBJECTIVE: MBL is a key factor in the complement activation of the lectin pathway. MBL gene polymorphism affects MBL serum levels. Serum MBL levels are elevated in patients with colorectal cancer and low levels of MBL are predictive of postoperative pneumonia. It is unclear whether this association is genetically related. This experimental study investigated the MBL genotyping in patients with colorectal cancer and healthy controls to assess the potential correlation between gene analysis and recurrence rates and survival rates. Methods: Four SNPs of MBL gene, two SNPs in promoter region and one SNP in non-coding region were analyzed by TaqMan genotyping and real-time quantitative PCR. Serum MBL content was determined by ELISA. RESULTS: Eight different MBL haplotypes were found in all specimens and their frequency of occurrence was almost identical in both patients and healthy subjects; the YA / YA genotype was associated with high levels of MBL, while YO / YO was associated with low levels of MBL levels of 6 different genotypes of CRC patients MBL levels there is a clear difference. CONCLUSION: MBL genotypes are significantly correlated with serum MBL concentrations (P <0.0001). Mutant B, C, D and promoter haplotypes Y and X play a major role in MBL. MBL genotype and postoperative infection There was no significant correlation between disease (P = 0.33) and recurrence and survival (P = 0.74). Therefore, from the genetic level can not explain why patients with colorectal cancer serum MBL levels increased. In contrast to the serum MBL levels already detected, its genotype has not been able to predict the course of the disease in patients with colorectal cancer.