Hepatocellular carcinoma （HCC） is one of the most common malignancies worldwide, ranking fifth in incidence and second in mortality （1）. Although HCC cases mainly occurred in South-East Asia and Southern Africa in...Hepatocellular carcinoma （HCC） is one of the most common malignancies worldwide, ranking fifth in incidence and second in mortality （1）. Although HCC cases mainly occurred in South-East Asia and Southern Africa in the past, the incidence of this disease has been on the rise in the Western countries over the forty last years （1）. Despite the advances in the diagnostic techniques and novel therapies, HCC remains a tumor with a dismal prognosis （2-4）. While the detection of HCC at an early stage allows the employment of potentially curative treatments, such as liver transplantation, surgical resection and tumor ablation, over two thirds of patients are diagnosed at a late stage of the disease, when conventional therapeutic approaches are ineffective （2-4）. Furthermore, administration of the multikinase inhibitor Sorafenib, the only drug approved by the Food and Drug Administration （FDA） for targeted therapy of advanced HCC, provides only limited benefits to HCC patients in terms of overall survival （2-4）. Thus, in order to improve significantly the effectiveness of therapeutic strategies against liver cancer, a deeper understanding of the molecular pathogenesis of this deadly disease is necessary.展开更多
文摘Hepatocellular carcinoma （HCC） is one of the most common malignancies worldwide, ranking fifth in incidence and second in mortality （1）. Although HCC cases mainly occurred in South-East Asia and Southern Africa in the past, the incidence of this disease has been on the rise in the Western countries over the forty last years （1）. Despite the advances in the diagnostic techniques and novel therapies, HCC remains a tumor with a dismal prognosis （2-4）. While the detection of HCC at an early stage allows the employment of potentially curative treatments, such as liver transplantation, surgical resection and tumor ablation, over two thirds of patients are diagnosed at a late stage of the disease, when conventional therapeutic approaches are ineffective （2-4）. Furthermore, administration of the multikinase inhibitor Sorafenib, the only drug approved by the Food and Drug Administration （FDA） for targeted therapy of advanced HCC, provides only limited benefits to HCC patients in terms of overall survival （2-4）. Thus, in order to improve significantly the effectiveness of therapeutic strategies against liver cancer, a deeper understanding of the molecular pathogenesis of this deadly disease is necessary.
文摘目的:探讨健康中国汉族人群中basigin(BSG)基因的单核苷酸多态性(single nucleotide polymorphisms,SNPs)发生情况。方法:随机收集48例健康、无亲缘关系的中国汉族人外周血液并提取基因组DNA,设计引物对所有个体BSG基因的启动子区、外显子区和外显子内含子交界区的序列进行PCR扩增和正反向测序,通过判读测序峰图,明确SNPs的发生情况及其频率;通过Hardy-Weinberg平衡分析、单倍型推测和连锁不平衡分析,确定BSG基因位点的单倍型标签SNPs(haplotype tag SNPs,htSNPs);中性理论检验查明该基因位点SNPs频率分布是否符合选择中性。结果:共发现19个SNPs,其中包括2个新发现的SNPs;所有SNPs位点基因型分布均符合Hardy-Weinberg平衡。该基因位点共推测出4种常见单倍型域,确定9个SNPs为htSNPs。中性理论检验结果提示健康中国汉族人群BSG基因的SNPs分布符合中性进化假说。结论:首次对中国健康汉族人群BSG基因的SNPs进行了发掘,确定了其9个单倍型标签SNPs,为在汉族人群中研究该基因的遗传多态性与疾病易感性或药物反应性个体差异奠定了基础。
