The Association Of PTEN Gene With The Development Of Hepatocellular Carcinoma

Part ?: Association of PTEN Polymorphisms with Susceptibility to Hepatocellular Carcinoma in Chinese Han PopulationObject: The phosphate and tension homolog (PTEN) is a tumor suppressor gene that controls a variety of biological processes including cell proliferation, migration and death. The present study is the first attempt to assess the association of PTEN polymorphisms with HCC susceptibility.Methods: We screened four polymorphisms(rs34421660, rs10490920, rs532678 and rs701848) of PTEN by the biosoftware and previous report, then we genotyped one insertion/deletion (indel) polymorphism (rs34421660) by PCR method, and three tag single nucleotide polymorphisms (rs10490920, rs532678 and rs701848) by PCR-RFLP in 134 HCC patients and 215 healthy controls. Analyzing the genotype data by SHEsis and SPSS programs, we studied the association of PTEN polymorphisms with susceptibility to hepatocellular carcinoma in Chinese Han population.Results: We found that the four polymorphisms were not associated with HCC, at both the allele and genotype levels. However, after reconstructing PTEN haplotypes according to genotyping data and linkage disequilibrium status of four polymorphisms, we found that the T-C-C-del haplotype was associated with the decreased HCC risk and the T-T-T-ins haplotype was associated with the increased HCC risk.Conclusion: our results proved that the single polymorphisms of PTEN were not associated with the risk of HCC. However, PTEN haplotypes may be associated with HCC susceptibility in Chinese Han population. PartП: Screening for Novel Occurring Splicing Variants of PTEN Gene in Patients with Hepatocellular CarcinomaObject: To screen for novel splicing variants of PTEN gene in hepatocellular carcinoma (HCC) patients and discuss its significance during the development of HCC.Methods: Extract RNA from HCC tumor tissues, and reverse transcribe into cDNA. According to PTEN sequences from Genbank, six pairs of different primers were designed to amplify exon 1 to exon 2(1-2),exon 1 to exon 3 (1-3),exon 2 to exon 4 (2-4),exon 3 to exon 5 (3-5),exon 4 to exon 6 (4-6) and exon 5 to exon 7 (5-7) using the cDNA template. 3% agarose gel electrophoresis was used to detect PCR products, and the sizes of the products were compared.Results: Sixty-one HCC patient samples were screened with each pair of primers; the amplified PCR products exhibited the same sizes as the wild type PTEN transcripts.Conclusion: Novel splicing variants of PTEN gene were not found in HCC tumor samples, which suggested splicing mutant of PTEN may not be present in HCC.