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To identify RHO mutations in patients with non-syndromic retinitis pigmentosa (NS-RP). A total of 143 probands (46 family history and 97 sporadic cases) with NS-RP were recruited from Southeast China. The coding exons and adjacent intronic regions of RHO were PCR-amplified and sequenced by Sanger sequencing. The candidate variant was evaluated by the guidelines of American College of Medical Genetics and further validated through co-segregation analysis within the family. Five heterozygous mutations in RHO were detected in 5 out of 143 probands, where the frequency of RHO mutations in our cohort was approximately 3.5% (5/143) and 10.8% (5/46) for probands and families with NS-RP, respectively. Three known disease-causing mutations including c.C1030T (p.Q344X), c.C173G (p.T58R), and c.G266A (p.G89D) were identified in three unrelated families. The other two previously unreported mutations c.557C>A (p.S186X) and c.944delA (p.N315TfsX43) were confirmed in Family RP-087 and Family RP-139, respectively. These mutations co-segregated with available affected individuals in each family were not observed in the unaffected family members or in the 112 unrelated controls. This report expands the mutational spectrum of RHO gene associated with NS-RP and demonstrates the frequency of RP RHO mutations in Southeast Chinese populations. [ABSTRACT FROM AUTHOR]

Abstract: A novel urchin-like In2O3–chitosan modified glassy carbon electrode (GCE) is for the first time prepared. The direct electrochemistry of glucose oxidase (GOD) immobilized on the surface of modified GCE and biosensing are studied. The urchin-like In2O3 nanostructure-based matrix has large specific surface area and provides a favorable and biocompatible microenvironment for promoting the direct electron transfer between proteins and electrode surface. The properties of different modified electrode are characterized by scanning electron microscopy (SEM), electrochemical impedance spectra (EIS), UV–vis spectroscopy, Fourier transform infrared spectroscopy (FTIR) and cyclic voltammetry, respectively. The constructed glucose biosensor shows wide linear range (5.0×10−6 to 1.3×10−3 M), low detection limit (1.9×10−6 M), a Michaelis–Menten constant of 0.37mM. The proposed biosensor has good sensitivity, excellent selectivity, good reproducibility and stability. This urchin-like In2O3–chitosan matrix provides a new approach and efficient matrix for the direct electrochemistry of proteins and developing novel types of biosensors. [Copyright &y& Elsevier]