CAJ | 학술논문

目的　探讨国人原发性散发性肾透明细胞癌中VHL抑癌基因突变及其意义。方法　采用聚合酶链反应及单链构像多态性分析（PCR-SSCP）和测序等方法，分析了20例原发性散发性肾透明细胞癌中Von Hippel-Lindau（VHL）抑癌基因突变的情况。结果　20例癌组织中11例有VHL基因突变，突变率为55%。这些突变主要发生在第1，2，3号外显子的后1/3区，其中6例缺失，2例插入，3例误义突变。结论　国人原发性散发性肾透明细胞癌中存在VHL基因的突变。VHL基因可作为临床诊断指标，并可望成为肾透明细胞癌基因治疗的重要目的基因。
목적　탐토국인원발성산발성신투명세포암중VHL억암기인돌변급기의의。방법　 채용취합매련반응급단련구상다태성분석（PCR-SSCP）화측서등방법，분석료20례원발성산발성신투명세포암중Von Hippel-Lindau（VHL）억암기인돌변적정황。결과　20례암조직중11례유VHL기인돌변，돌변솔위55%。저사돌변주요발생재제1，2，3호외현자적후1/3구，기중6례결실，2례삽입，3례오의돌변。결론　국인원발성산발성신투명세포암중존재VHL기인적돌변。VHL기인가작위림상진단지표，병가망성위신투명세포암기인치료적중요목적기인。
Objective To investigate the mutation of Von Hippel-Ldau（VHL）tumor suppressor gene in peatients with primary sporadic human renal cell carcinoma（RCC）.Methods DNA samples from 20 primary sporadic renal clear carcinoma prtients were analyzed by polymerase chain reaction,single strand conformational polymorphism analyses(PCR-SSCP)and direct sequencingResults　Somatic mutations of the VHL gene were detected in 11 (55%) of the 20 clear cell renal carcinomas, including 6 deletions, 2 insertions, and 3 missense mutations. These mutations mainly occurred in the last one-third region of exon 1, 2 and 3 of the VHL gene. Conclusion　The VHL gene may frequently mutate in Chinese patients with primary sporadic renal clear cell carcinoma. The VHL gene may be useful as a marker gene for the diagnosis of RCC and as a target gene for molecular therapy.