Cystic fibrosis (CF), a genetic disease caused by mutations in the CFTR
gene, is a life-limiting disease characterized by chronic bacterial airway infection and severe inflammation.
Mutation analysis: PCR amplification of exon10 and 17a of CFTR
gene was performed using Gene Amp PCR System 9700 (Applied Biosystems, USA).
Twenty nanograms of each genomic DNA sample were used for PCR enrichment of CFTR
targets by applying a custom AmpliSeq[TM] panel (Life Technologies).
38) The aqueous layer, which is composed of proteins, electrolytes, enzymes, metabolites and water (39) is principally produced by the lacrimal gland and accessory lacrimal glands, although recent evidence suggests a small proportion of electrolytes and water are secreted by the cornea and conjunctiva, via ion channels, (40) including CFTR
(see Figure 2).
The remaining 77 mutations were tested biochemically in cells to determine the amount of damage sustained by the CFTR
protein in each case.
Gross genomic rearrangements involving deletions in the CFTR
gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.
There are approximately 1250 known CFTR
mutations, with homozygous [DELTA]F508 being the most common.
When the scientists exposed the mice to a bacterium called Pseudomonas aeruginosa that commonly infects cystic fibrosis patients, mice lacking a functional CFTR
protein proved significantly more susceptible to it than normal mice.
We used dilutions of 1:2 for CAII, 1:400 for NHE3, 1:50 for CFTR
, 1:100 for DRA, 1:200 for ATPase [alpha]1, 1:400 for ER[alpha], and 1:400 for ER[beta].
Genzyme Corporation today announced the commercial availability of cystic fibrosis (CF) gene sequencing -- a new diagnostic test that can detect approximately 98 percent of the more than 1,200 disease-causing mutations in the CFTR
gene is responsible for producing glutathione, as it makes the CFTR
protein that exports glutathione.
CF manifests when a person receives a mutated copy of the CFTR
gene from both parents.