韩国肺癌患者中CFTR基因的F508氨基酸缺失突变

F508 amino acid deletion mutation of CFTR gene in Korean lung cancer patients.

作者信息

Jung Y, Ha H, Jung S H, Lee M G, Lee H W, Yoon J, Choi J W, Yeh B I

机构信息

Department of Biochemistry and Institute of Basic Medical Science, Wonju College of Medicine, Yonsei University, Korea.

出版信息

Exp Mol Med. 2001 Mar 31;33(1):29-31. doi: 10.1038/emm.2001.6.

DOI:10.1038/emm.2001.6

PMID:11322483

Abstract

Mutations of the transmembrane conductance regulator (CFTR) gene in cystic fibrosis lead to dysfunction of the lung, pancreas, and sweat glands, etc. To investigate the possibility of the relationship between lung cancer and the mutations of CFTR gene, we determined amino acid sequences using reverse transcription-polymerase chain reaction (RT-PCR) and DNA sequencing. In this study, the deletion mutation of 508th amino acid in one of nine lung caner patients was found confirming that CFTR gene mutation exists in a Korean lung cancer patient.

摘要

囊性纤维化中跨膜传导调节因子（CFTR）基因的突变会导致肺、胰腺和汗腺等功能障碍。为了研究肺癌与CFTR基因突变之间关系的可能性，我们使用逆转录聚合酶链反应（RT-PCR）和DNA测序来确定氨基酸序列。在本研究中，在9名肺癌患者中的1名患者中发现了第508位氨基酸的缺失突变，证实了一名韩国肺癌患者中存在CFTR基因突变。