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Comparing FLG Genes of Atopic Dermatitis Phenotype with Reference Genes

The association between filaggrin protein deficiency and aberrations in the FLG gene of humans has been well established in the literature. To a lesser extent, this correlation has been made with mice as well. NCBI has reference data for both organisms; there is also public data available with known deletions for each species. The 4 corresponding protein translation sequences are also available through NCBI. In this project, these 4 FLG genes were compared using several bioinformatics tools. The deletions were elicited and pertinent sequence data is displayed in this report. From this information, it can be ascertained that c.3321delA (JN184346.1) and the flaky tail FLG gene (FJ824603.1) are genetic variations. These changes result in significant protein translation alterations. This report also shows that the mouse FLG gene is 72% similar to the human FLG gene making it a suitable model for further dermatitis research.

Kashin-Beck Disease and Putative Mutations in GPX1 Gene

 

1R.S. Gunasekera, 1C. Garcia,  1J. Cokenour, and 1, 2P. Sen,

 

1Department of Biology, University of Houston-Victoria, University of Houston System in Sugar Land, 14,000 University Blvd., Sugar Land, TX 77479. 2Department of Pediatrics-Nutrition, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77020, USA

 

Kashin-Beck disease is an osteoarthritic disease affecting people, particularly children, in certain far eastern countries sometimes up to 20% of the population in some villages. There is no proven etiology for the disease. We have collected saliva and hair samples from affected people of ages ranging from 6 - 60 years residing in Tibet, for DNA analysis. Previously others have done preliminary clinical studies on Tibetans showing clinical signs of Kashin-Beck disease and have found a significant deficiency of selenium and iodine in their blood. Selenium and iodine supplementation of affected persons had been conducted by others (intramuscular injection as well as sodium selenate tablets) with no positive result.  Selenium is utilized for the use of the oxidative/reduction functions of peroxidases. Our hypothesis suggests that deficiencies in selenium and iodine may not be causal, but markers of an underlying condition of extreme oxidative stress brought on by highly reactive oxygen species and free radicals acting to inhibit proper mesenchymal cell and bone development. Glutathione peroxidase, a selenocysteine-based antioxidant enzyme, is expressed throughout various loci on the human chromosome 3. While there are several loci associated with the production of glutathione peroxidase the most notable is on the GPX1 gene. The GPX1 gene has two exons. Methods for this study include designing primers for these two exons and utilizing the polymerase chain reaction (PCR) to study the specific gene products of DNA samples.  PCR amplified areas have been sequenced with the ABI 3130X and ABI 310 genetic analyzers to establish a baseline sequence for GPX1. Results have been compared against available human nucleotide databases found at the national center for biotechnology information (NCBI) using the nucleotide query Basic Local Alignment Search Tool (BLAST). These in-silco results and conclusions from these results are reported. 

 

Published as a poster abstract at the Texas Genetics society’s 2010 Update Conference.

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