Expression of the cystic fibrosis transmembrane conductance regulator gene in the respiratory tract of normal individuals and individuals with cystic fibrosis

Journal Article · Thu Aug 01 04:00:00 EDT 1991 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.88.15.6565· OSTI ID:5703300

Trapnell, B C; Chu, Chinshyan; Paakko, P K; Banks, T C; Yoshimura, Kunihiko; Ferrans, V J; Chernick, M S; Crystal, R G ^[1]

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1. National Inst. of Health, Bethesda, MD (United States)

The most common mutation of the cystic fibrosis transmembrane conductance regulator gene, CFTR, associated with the clinical disorder cystic fibrosis (CF) is called {Delta}Phe{sup 508}, a triple-base deletion resulting in loss of phenylalanine at residue 508 of the predicted 1480-amino acid CFTR protein. In the context that the lung is the major site of morbidity and mortality in CF, the authors evaluated airway epithelial cells for CFTR mRNA transcripts in normal individuals, normal-{Delta}Phe{sup 508} heterozygotes, and {Delta}Phe{sup 508} homozygotes to determine if the normal and {Delta}Phe{sup 508} CFTR alleles are expressed in the respiratory epithelium, to what extent they are expressed, and whether there are relative differences in the expression of the normal and abnormal alleles at the mRNA level. Respiratory tract epithelial cells recovered by fiberoptic bronchoscopy with a cytology brush demonstrated CFTR mRNA transcripts with sequences appropriately reflecting the normal and {Delta}Phe{sup 508} CFTR alleles of the various study groups. CFTR gene expression quantified by limited polymerase chain reaction amplification showed that in normal individuals, CFTR mRNA transcripts are expressed in nasal, tracheal, and bronchial epithelial cells.

• OSTI ID: 5703300
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (United States) Vol. 88:15; ISSN PNASA; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

550200* -- Biochemistry
59 BASIC BIOLOGICAL SCIENCES
ANIMAL CELLS
ANIMALS
BIOLOGY
CYTOLOGY
DISEASES
DNA POLYMERASES
ELECTRON MICROSCOPY
ENZYMES
FIBROSIS
GENE AMPLIFICATION
GENE REGULATION
HEREDITARY DISEASES
HUMAN POPULATIONS
MAMMALS
MAN
MEMBRANE PROTEINS
MEMBRANE TRANSPORT
MESSENGER-RNA
MICROSCOPY
MOLECULAR BIOLOGY
MUTATIONS
NUCLEIC ACIDS
NUCLEOTIDYLTRANSFERASES
ORGANIC COMPOUNDS
PATHOLOGICAL CHANGES
PHOSPHORUS-GROUP TRANSFERASES
POLYMERASES
POPULATIONS
PRIMATES
PROTEINS
RECESSIVE MUTATIONS
RESPIRATORY TRACT CELLS
RNA
TRANSCRIPTION
TRANSFERASES
TRANSMISSION ELECTRON MICROSCOPY
VERTEBRATES