Bu calismada Sanliurfa ilindeki ter testi sonucu supheli olan ve klinik on tanisi KF olan toplam 102 hasta yeni nesil sekanslama yontemi ile CFTR
gen mutasyonlari acisindan incelenmistir.
The most prevalent mutation of CFTR
is deletion of a single phenylalanine residue at amino acid 508.
Next-generation sequencing (NGS) technology, which screens the whole CFTR
gene for abnormal alleles, is becoming more accessible and affordable in SA.
"These reports represent a major breakthrough in cystic fibrosis therapeutics, with the potential for improving health and possibly survival in all patients who carry the most common CFTR
mutation," write the authors of an accompanying editorial.
The altered CFTR
protein in those with CF leads to viscous secretions that accumulate in the lungs.
This occurs due to lack of functional CFTR
protein leading to dehydration of mucus layer in the airways, increasing the viscosity, impairing mucus clearance, and causing recurrent infections .
Overall, the data strongly indicate that the resumption of CFTR
functional expression in CFBE: hAMSCs cocultures is mediated by GJIC.
For sequencing analysis, samples were analyzed by direct sequencing of all 27 exons of the CFTR
gene and their flanking introns in an ABI-3130 DNA analyzer (Applied Biosystems, USA).
Inhibition Impairs Phagocytosis in RAW264.7 Cells.
The researchers then exposed the nasospheroids to various CFTR
drugs to see what would happen.
Another ABC protein, CFTR
(ABCC7), is the most unique member of the ABC superfamily.
Because the detection rate in the African American population is lower and quoted as 64%, the patient elected full gene sequencing of CFTR
since the partner was not available.