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Symbol for female genetic





symbol for female genetic

Gene therapy is a promising experimental approach to treat genetic disease such as DMD. Network analysis highlighted non-random interconnectivity between the genetic modifiers identified in DMD patients, and potentially shed light on new genetic modifiers by their functional coupling to these known genes. Among the genetic modifiers identified in DMD patients, THBS1 has higher network topological parameters, followed by SPP1, ACTN3 and LTBP4. stopgain) or frameshift mutation likely lead to more pathogenic. Exon 19 appeared to have most density of pathogenic SNP distribution. The largest category was nonsynonymous account for nearly 64% of all mutations. We examined a total of 3,627 exonic SNPs in the DMD gene. DMD genetic alternations in different tumors have also been investigated via cBioPortal. The protein-protein interaction (PPI) network for genetic modifiers identified in DMD patients was explored. In this study, we performed a systematic analysis of the DMD genetic variants via the Single Nucleotide Polymorphism Database (dbSNP), and annotated the functions of the variants with wANNOVAR. Although mutations in the DMD genes have been widely studied, to our knowledge, a systematic genetic analysis of all variants, especially single nucleotide polymorphisms (SNPs), of the gene in human have not been reported. Interestingly, it has also been reported that muscular dystrophy patients may be at increased risk of malignancy. Recent advances in molecular therapies for DMD have need of precise genetic diagnosis, since a large number of therapeutic approaches are mutation specific. Phenotypic variations in DMD may also occur in patients with the same primary mutation due to secondary genetic modifiers. Mutations in the DMD gene encoding the dystrophin protein lead to the dystrophinopathies DMD. Duchenne muscular dystrophy (DMD) is a rare, severe, progressive genetic disorder causing disability and premature death. Hubert Chen, Ivymind Academy, New Jersey, USA E-mail: ANALYSIS OF GENETIC VARIATION OF DUCHENNE MUSCULAR DYSTROPHY AND IMPLICATION FOR CANCERĪbstract. In addition, our results also suggest DMD gene may serve as a diagnostic and therapeutic target for certain types of cancer.

symbol for female genetic





Symbol for female genetic