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Expression of the Cystic Fibrosis Transmembrane Conductance Regulator Gene in the Respiratory Tract of Normal Individuals and Individuals with Cystic Fibrosis
Bruce C. Trapnell, Chin-Shyan Chu, Paavo K. Paakko, Tyrone C. Banks, Kunihiko Yoshimura, Victor J. Ferrans, Milica S. Chernick and Ronald G. Crystal
Proceedings of the National Academy of Sciences of the United States of America
Vol. 88, No. 15 (Aug. 1, 1991), pp. 6565-6569
Published by: National Academy of Sciences
Stable URL: http://www.jstor.org/stable/2357337
Page Count: 5
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The most common mutation of the cystic fibrosis transmembrane conductance regulator gene, CFTR, associated with the clinical disorder cystic fibrosis (CF) is called "Δ Phe508," 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, we evaluated airway epithelial cells for CFTR mRNA transcripts in normal individuals, normal-Δ Phe508 heterozygotes, and Δ Phe508 homozygotes to determine if the normal and Δ Phe508 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 Δ Phe508 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 at ≈ 1-2 copies per cell, more than 100-fold greater than in pharyngeal epithelium. Importantly, allele-specific hybridization studies demonstrated that the normal and Δ Phe508 CFTR alleles are expressed in the respiratory epithelium in similar amounts.
Proceedings of the National Academy of Sciences of the United States of America © 1991 National Academy of Sciences