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SCN5A encodes sodium-channel α-subunit Nav1.5. The mutations of SCN5A can lead to hereditary cardiac arrhythmias such as the long-QT syndrome type 3 and Brugada syndrome. Here we sought to identify novel mutations in a family with arrhythmia.
Genomic DNA was isolated from blood of the proband, who was diagnosed with atrial flutter. Illumina Hiseq 2000 whole-exome sequencing was performed and an arrhythmia-related gene-filtering strategy was used to analyse the pathogenic genes. Sanger sequencing was applied to verify the mutation co-segregated in the family.
Results and conclusions
A novel missense mutation in SCN5A (C335R) was identified, and this mutation co-segregated within the affected family members. This missense mutation was predicted to result in amplitude reduction in peak Na+ current, further leading to channel protein dysfunction. Our study expands the spectrum of SCN5A mutations and contributes to genetic counselling of families with arrhythmia.
The characterization and properties of InN thin films
grown on GaN templates by metalorganic chemical vapor deposition (MOCVD) at
various growth temperatures were investigated. Their carrier concentrations
ranged from 4.6 × 1018 to 4 × 1019 cm−3and mobility valued from 150 to 1300 cm2/V s. The variation of the
growth temperature brought about different growth rates. It was also found
that growth rate is increased with the increasing growth temperature and
reached 470 nm/h for the InN epitaxial layer grown at 675 °C. The
surface roughness of InN layers was obtained from AFM measurement.
The structural quality of the InN layers was determined by TEM. The surface
and cross-sectional morphologies of these films are evaluated by SEM. The
layer crystalline quality was investigated by means of X-ray diffraction in
the rocking curves. Photoluminescence measurements performed at 7 K and room
temperature gave emission peaks at around 0.7 eV.
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