Source:http://linkedlifedata.com/resource/pubmed/id/11069835
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5
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| pubmed:dateCreated |
2000-12-4
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| pubmed:abstractText |
Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane regulator (CFTR) gene. The 5T allele in intron 8 (IVS8) causes abnormal splicing in the CFTR gene, and is associated with lung disease when it occurs in cis with a missense mutation in the CFTR gene, R117H. However, the 5T variant alone has not been reported to cause lung disease. We describe two adult female patients with CF-like lung disease associated with the 5T allele. One patient's genotype is 5T-TG12-M470V/5T-TG12-M470V, and the other is DeltaF508/5T-TG12-M470V; full sequencing of the CFTR gene revealed no other mutation on the same allele as the 5T variant. The levels of full-length CFTR mRNA in respiratory epithelia were very low in these patients (11 and 6%, respectively, of total CFTR mRNA expression). Both patients had defective CFTR-mediated chloride conductance in the sweat ductal and/or acinar epithelia (sweat chloride, mmol/L, mean +/- SEM: 40.0 +/- 5.0 [n = 8 samples] and 80. 0 +/- 3.5 [n = 6 samples]) and airway epithelia (mV, mean +/- SEM CFTR-mediated Cl(-) conductance of 1.2 +/- 2.2 [n = 5 studies] and -6.75 +/- 8.1 [n = 4 studies]). These data suggest that the 5T polythymidine tract sequence on specific haplotype backgrounds (TG12 and M470V) may cause a low level of full-length functional CFTR protein and CF-like lung disease.
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| pubmed:grant | |
| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
AIM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Nov
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| pubmed:issn |
1073-449X
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| pubmed:author | |
| pubmed:issnType |
Print
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| pubmed:volume |
162
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
1919-24
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| pubmed:dateRevised |
2007-11-14
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| pubmed:meshHeading |
pubmed-meshheading:11069835-Age of Onset,
pubmed-meshheading:11069835-Alleles,
pubmed-meshheading:11069835-Cystic Fibrosis,
pubmed-meshheading:11069835-Cystic Fibrosis Transmembrane Conductance Regulator,
pubmed-meshheading:11069835-Epithelium,
pubmed-meshheading:11069835-Female,
pubmed-meshheading:11069835-Genotype,
pubmed-meshheading:11069835-Haplotypes,
pubmed-meshheading:11069835-Heterozygote,
pubmed-meshheading:11069835-Homozygote,
pubmed-meshheading:11069835-Humans,
pubmed-meshheading:11069835-Introns,
pubmed-meshheading:11069835-Ion Transport,
pubmed-meshheading:11069835-Lung Diseases,
pubmed-meshheading:11069835-Middle Aged,
pubmed-meshheading:11069835-Mutation, Missense,
pubmed-meshheading:11069835-Polymorphism, Genetic,
pubmed-meshheading:11069835-RNA, Messenger,
pubmed-meshheading:11069835-Respiratory Mucosa,
pubmed-meshheading:11069835-Sweat
|
| pubmed:year |
2000
|
| pubmed:articleTitle |
Lung disease associated with the IVS8 5T allele of the CFTR gene.
|
| pubmed:affiliation |
Cystic Fibrosis/Pulmonary Research and Treatment Center, Departments of Medicine, and Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599-7248, USA.
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| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|