F508 amino acid deletion mutation of CFTR gene in Korean lung cancer patients.
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.
Jung
Y
Y
Department of Biochemistry and Institute of Basic Medical Science, Wonju College of Medicine, Yonsei University, Korea.
Ha
H
H
Jung
S H
SH
Lee
M G
MG
Lee
H W
HW
Yoon
J
J
Choi
J W
JW
Yeh
B I
BI
D000328:Adult; D000368:Aged; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006801:Humans; D007723:Korea; D008175:Lung Neoplasms / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D017384:Sequence Deletion
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator