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

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.

• Authors: Y Jung, H Ha, S H Jung, M G Lee, H W Lee, J Yoon, J W Choi, B I Yeh
• Journal: Experimental & molecular medicine (Exp Mol Med) Vol. 33 Issue 1 Pg. 29-31 (Mar 31 2001) ISSN: 1226-3613 [Print] United States
• PMID: 11322483 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• CFTR protein, human
• Cystic Fibrosis Transmembrane Conductance Regulator

Topics

• Adult
• Aged
• Cystic Fibrosis Transmembrane Conductance Regulator (genetics)
• Female
• Humans
• Korea
• Lung Neoplasms (genetics)
• Male
• Middle Aged
• Sequence Deletion