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[目的]进一步阐明HCCS1基因在肝细胞癌发病中的作用,研究肝细胞癌HCCS1基因突变和杂合缺失状态。[方法]采用PCR-SSCP杂合缺失分析和测序技术对62例肝细胞癌HCCS1基因突变和杂合缺失进行了检测。[结果]在62例肝细胞癌中无一例体细胞突变,但发现9个单核苷酸多态性。在56例杂合子中,各位点杂合缺失率从32.3%到46.9%不等。[结论]未能在来自西南地区的中国肝细胞癌患者中发现HCCS1突变,HCCS1基因在肝细胞癌发生发展过程中的作用尚需进一步研究。
[Objective] To further clarify the role of HCCS1 in the pathogenesis of hepatocellular carcinoma and to study the HCCS1 gene mutation and heterozygous deletion in hepatocellular carcinoma. [Method] HCCS1 gene mutation and heterozygous deletion in 62 cases of hepatocellular carcinoma were detected by PCR-SSCP missense deletion analysis and sequencing. [Results] There was no somatic mutation in 62 cases of hepatocellular carcinoma, but 9 single nucleotide polymorphisms were found. Among 56 heterozygotes, the heterozygous deletion rate at each loci ranged from 32.3% to 46.9%. [Conclusion] HCCS1 mutation can not be found in Chinese hepatocellular carcinoma patients from southwest China. The role of HCCS1 gene in the development of hepatocellular carcinoma needs further study.