Dunya genelinde ve Avrupa'da
CFTR geninde en sik gozlenen mutasyon AF508'dir (1, 13).
One infant died at 16 months of age; autopsy revealed mucus-plugged, dilated exocrine ducts in the pancreas.[7] CF patients reported in Taiwan have diverse novel
CFTR mutations [Table 1].
Abnormal
CFTR function in sweat glands manifests as impaired salt (NaCl) reabsorption and is the physiological basis of the sweat test.
The
CFTR protein is abundantly expressed in the pancreatic duct epithelia.
[9] Luminex Corporation, xTAG Cystic Fibrosis (
CFTR) 60 Kit v2 (US-IVD) Package Insert, Luminex Corporation, Austin, TX, USA, https://www.luminexcorp.com/clinical/genetic-testing/ cystic-fibrosis/resources/.
Overall, in this study, we used six hAMSC isolates: three for analysis of Cx43 mRNA/protein expression and GJIC and another three for analysis of
CFTR protein expression/function and paracellular permeability.
Mutation detection: During mutation screening of 27 Iranian CF patients (54 chromoosomes), ten different
CFTR mutations were detected; R334W was the most frequent one (40.74% of CF alleles).
The results suggest growing nasospheroids from nasal samples could provide a quick screening method to determine how a patient's cells react to different
CFTR drugs.
Callebaut, "Full-open and closed
CFTR channels, with lateral tunnels from the cytoplasm and an alternative position of the F508 region, as revealed by molecular dynamics," Cellular and Molecular Life Sciences, vol.
The c.2620-6T>C variant, a T to C transition at position 27526 in intron 15 of the
CFTR gene, has only been reported once in the Cystic Fibrosis Mutation Database as a splicing mutation in a patient with CBAVD, but no other symptoms were noted [6].
Of the 13 resilient people in the study, three carry dual copies of a very rare mutation in the
CFTR gene but don't have cystic fibrosis.