摘要
背景与目的:Wnt信号通路在乙型肝炎病毒(hepatitis B virus,HBV)相关肝细胞癌(肝癌)发生发展中起重要作用,β-catenin基因编码的β-catenin是该通路的关键因子,已在肝癌组织检测到β-catenin基因变异且存在于exon3的condons32～45之间。本研究旨在探讨β-catenin宿主基因多态性与人肝癌易感的关系。方法:对162例有慢性HBV感染的肝癌患者进行肝癌家系和流行病学调查后,对有和无肝癌家族史病例按匹配条件进行1:1配对。采用DNA聚合酶链反应-基因测序方法对入选患者进行β-catenin基因exon3扩增及序列检测,并结合肝癌家系调查结果比较分析SNP rs28931588、rs28931589和codons31～46基因序列。结果:162例中有肝癌家族史者16例(9.87%)。选择24例(包括有肝癌家族史12例和与之匹配的无肝癌家族史12例)进行基因exon3扩增及测序。24例患者在SNP rs28931588、rs28931589位点均为"G",其中3例exon3的codons32～46序列有差异,存宿主基因多态性。但是未能见到明确的突变规律和特异性热点突变位点。结论:β-catenin基因exon3中SNP rs28931588、rs28931589和codons31～46序列可能不是HBV相关肝癌的遗传学标志。
Background and Objective. Wnt signaling pathway plays an important role in the carcinogenesis of hepatitis B virus （HBV）-related hepatocellular carcinoma （HCC）. β-catenin protein is a pivotal regulator in the pathway. Genetic mutation has been observed in the codons 32-45 at exon 3 of β-catenin gene in HCC tissues. This study was to investigate the correlation of genetic polymorphisms of β-catenin to HBV-related HCC. Methods. We conducted epidemiologic and genetic investigation in 162 patients with HBV- related HCC. According to matching requirements, patients with or without family history of HCC were paired with a ratio of 1：1. Exon 3 of β-catenin gene was detected by polymerase chain reaction （PCR） and DNA sequencing. Single nucleotide polymorphism （SNP） rs28931588, rs28931589, codons 31-46 sequences and genetic investigation were analyzed. Results. Among the 162 HCC patients, 16 （9.88%） had family history of HCC; 12 patients with family history of HCC and 12 without family history were matched. The 24 patients all showed G on rs28931588 and rs28931589. Three patients showed mutation in codons 32-46 and had genetic polymorphisms. Definite mutational regularity or characteristic mutational site was not observed. Conclusion： SNP rs28931588, rs28931589 and codons 31-46 sequences may not be the genetic markers in HBV-related HCC.
出处
《癌症》
SCIE
CAS
CSCD
北大核心
2009年第6期607-611,共5页
Chinese Journal of Cancer
