CAJ | 학술논문

目的探讨转化生长因子-β受体Ⅰ(TGF-βRI)基因与非小细胞肺癌(NSCLC)遗传易感性的关系.方法采用单链构象多态性分析(SSCP)和DNA测序方法,观察53例原发性NSCLC组织的TGF-βRI基因的整个密码区域以及旁侧内含子序列的改变.结果未见任何体细胞水平的突变,但在TGF-βRI基因中发现了两个沉默突变和一个多态性位点.两个沉默突变分别位于密码子的344位(由ATT突变成AAC)和密码子的406位(由TTA突变成CTA).多态性位点位于该基因的第7号内含子中的第24位核苷酸处(由G突变成A).根据病例组和对照组分析,可见纯合基因型A/A携带者患非小细胞肺癌的风险比野生基因型G/G的携带者高出3倍以上.结论 TGF-βRI基因虽然不是自发突变失活的频繁位点,但是此处研究的多态性可能具有NSCLC的遗传易感性.
목적 탐토전화생장인자-β수체Ⅰ(TGF-βRI)기인여비소세포폐암(NSCLC)유전역감성적관계.방법 채용단련구상다태성분석(SSCP)화DNA측서방법,관찰53례원발성NSCLC조직적TGF-βRI기인적정개밀마구역이급방측내함자서렬적개변.결과 미견임하체세포수평적돌변,단재TGF-βRI기인중발현료량개침묵돌변화일개다태성위점.량개침묵돌변분별위우밀마자적344위(유ATT돌변성AAC)화밀마자적406위(유TTA돌변성CTA).다태성위점위우해기인적제7호내함자중적제24위핵감산처(유G돌변성A).근거병례조화대조조분석,가견순합기인형A/A휴대자환비소세포폐암적풍험비야생기인형G/G적휴대자고출3배이상.결론 TGF-βRI기인수연불시자발돌변실활적빈번위점,단시차처연구적다태성가능구유NSCLC적유전역감성.
Objective 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). Methods 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 No somatic point muta-tions 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 (TrA to CTA) ,respectively,and the poly-morphism was at 24 th 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. Conclusion 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.