Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with a prevalence of 1 in 95,136 in Taiwan. TSC is characterized by hamartomatous lesions in multiple organ systems. Genetic defects in TSC1 and TSC2 genes are the main causes of TSC. A molecular screening protocol using denaturing high-performance liquid chromatography (dHPLC) followed by DNA sequencing is currently performed to locate the genetic lesions in many clinical laboratories. The current screening approach is time consuming and inefficient. In this study, we analyzed all coding exons of TSC1 and TSC2 genes of 30 TSC patients and 47 unaffected family members using the traditional dHPLC protocol and our recently developed diagnostic platform based on high-resolution melting analysis (HRM) followed by bidirectional DNA sequencing. Data indicated that 20 mutations, including 5 mutations in TSC1 (2 sporadic, 1 familial mutation, and 2 of uncertain origin) and 15 mutations in TSC2 (14 sporadic and 1 familial mutation), 8 single-nucleotide polymorphisms (SNPs, including 3 SNPs found in irrelevant individuals without TSC phenotypes studied in the control group), and 3 variants with undetermined significance were identified, including 4 novel mutations. The sensitivities of HRM and dHPLC for TSC mutation screening were estimated as 95% and 75%, respectively. The specificities of HRM and dHPLC for TSC mutation screening were evaluated as 91% and 98%. In addition, results suggested our novel HRM screening protocol to be more economical. In conclusion, we successfully developed a superior approach for TSC genes mutation screening for clinical application.
Coordinated development of regional economy and ecological environment is one of the core issues of sustainable development practices. In this paper, the numerical parametric statistical method and geospatial analysis tools were used to analyze the spatial-temporal characteristics of coupling relationship between regional economy and ecological environment, the results show that:(1) The EKC of the regional economy and ecological environment is N-shaped, there exists co-integration relationship, but no granger causality between them. (2) The analysis of temporal characteristics shows that the index of economic curve increased relatively stable, since new century, it increases rapidly. The changes of the ecological environments index are relatively stable after it reaches a relative high level in 2005. (3) The spatial differences between regional economy and ecological environment show that all cities of Wanjiang City Belt have significant spatial variation characteristics. To be specific, the condition of regional economy and ecological environment in Hefei, Maanshan and Wuhu, etc. is better than Chizhou, Anqing and Xuancheng etc.
It was discussed of the selection method of characteristic spectral band and the establishing of inversion model to monitor winter wheat stripe rust using hyperspectral data in this study. The correlation coefficients between the DI (disease incidence) at different stages of infection and the initial canopy reflectance spectral and the derivative of the reflectance spectrum were compared, respectively. The results showed that the derivative of the reflectance spectra has reached higher significant level with the DI than the initial reflectance spectral data. The initial reflectance in the visible light 680nm wavelength and the near infrared 976nm, 1010nm wavelength were selected to do regression with the DI of winter wheat stripe rust. And some inversion models between the DI and the hyperspectral data or its conversion patterns like NDVI (Normalized difference vegetation index), RVI (Ratio vegetation index), TVI (Transformed vegetation index) and its differential values of the canopy spectral reflectance data to monitor winter wheat stripe rust were established. Meanwhile, those correlation coefficients were compared respectively, of which we found the pattern of vegetation index has more efficient commonly than initial canopy spectral reflectance data by aggression analysis with the DI. The paper also suggested that the possibility of developing a special visible/near-infrared sensor for the detection of the DI of winter wheat stripe rust theoretically. Else, the SRSI (stripe rust stress index) mechanism model was presented for the first time in this paper.
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