Relationship between genetic susceptibility of non-small cell lung cancer and TGF-βRI gene
TGF-βRI gene is a tumor-suppressing gene. The loss of its biological activity due to the mutation of this gene has been found in a variety of human tumors.To investigate whether the transforming growth factor-beta receptor type I(TGF-βRI) gene is associated with genetic predisposition of primary non-small cell lung cancer (NSCLC). The entire coding region of TGF-βRI and flanking intron sequences from 53 NSCLC tissues were examined for alterations using SSCP and direct sequencing. Results show that no somatic point mutations other than two silent mutations and a polymorphism were found in the TGF-βRI gene. The two silent mutations located at codon 544 (AAT to AAC) and codon 406 (TTA to CTA), respectively, and the polymorphism was at 24th base of intron7 (G to A). Interestingly, we found that the subjects with homozygous genotype A/A displayed more than threefold increased risk of developing NSCLC than the common wild genotype G/G. As the first report, this study showed that TGF-βRI gene is not a frequent site of spontaneous mutational inactivation while the detected polymorphism could be a susceptibility allele that predisposes to carcinogenesis of NSCLC.
TGF-βRI NSCLC PCR-SSCP Mutation Polymorphism
Shi-Ying ZHENG Hong-Tao ZHANG Jun ZHAO Ling-Yan XU
Department of Cardio-Thoracic Surgery, The First Affiliated Hospital of Suzhou University,Suzhou 215 Laboratory of Medical Genetics, School of Life Sciences, Suzhou University, Suzhou 215007, China
国际会议
上海
英文
117-124
2008-05-16（万方平台首次上网日期，不代表论文的发表时间）