Genetics Human Diseases

Question: Discuss about theGeneticsfor Human Diseases. Answer: Introduction The conditional gene knockout methodology would be used to address the learning and memory defects in the adult mouse. It is the process of inactivating the gene of interest in the specific tissue while in the wild type; the gene retains its original function. It is useful in studying the human diseases and developmental stages in human. In target gene inactivation, there is reliable association of the phenotype and the role of individual gene study in vivo. This conditional gene knockout methodology could be used to delete the Msc 1 gene in the brain tissue of the mouse and to study the learning and memory defects. The knockout mouse lacks the Msc 1 gene during the early embryonic stages and the learning and thinking defects are due to the developmental defects in the wiring of the brain. The conditional gene knockout creates the knockout mutations in embryonic stem cells and it is the best way by which the function and role of certain genes in human diseases are studied (Gierut, Jacks and Haigis 2014). The tissue- specific conditional knockout mouse is used to study the gene function and targeted validation. The targeted tissue in the brain associated with thinking or learning are inactivated that is there is no gene of interest and no expression and induced in the mouse (Davila et al. 2014). The same gene of interest is functional in the rest of the body. The knockout mouse would harbor a gene that completely lacks the normal function of the gene due to absence or non-functional gene product. The targeted gene deletion helps to study the biological role and the in vivo function of the specific gene in human diseases. The underlying pathophysiology is understood and the associated therapies in treating the disease. The Cre-Lox recombinase system is used to achieve the conditional knockout methodology. This method helps to knockout the gene of interest only in specific tissues. In conditional gene knockout, the DNA recombinase Cre and lox-P are the recognition sites (Kratochwil and Rijli 2014). In conditional, the target gene Msc 1 gene is modified by insertion of the lox-P in to the sites that excise the floxed gene segment by using Cre recombinase. The crossing of Cre transgenic with the floxed strain makes the inactivation of the target gene in vivo under the domain of Cre expression (Niesner and Maheshri 2013). The Msc 1 gene becomes inactivated in the Cre expressing cells while in other parts of the body the gene is active. References: Davila, D., Thibault, K., Fiacco, T.A. and Agulhon, C., 2014. Recent molecular approaches to understanding astrocyte function in vivo.Imaging and monitoring astrocytes in health and disease. Gierut, J.J., Jacks, T.E. and Haigis, K.M., 2014. Strategies to achieve conditional gene mutation in mice.Cold Spring Harbor Protocols,2014(4), pp.pdb-top069807. Kratochwil, C.F. and Rijli, F.M., 2014. The Cre/Lox system to assess the development of the mouse brain.Brain Development: Methods and Protocols, pp.295-313. Niesner, B. and Maheshri, N., 2013. Using the crelox system to randomize target gene expression states and generate diverse phenotypes.Biotechnology and bioengineering,110(10), pp.2677-2686.