Single Gene Disorders Table of Contents Introduction2 Introduction Genetics is the study of hereditary –A parent passing certain genes onto their offspring– as well as the variation of inherited...

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Single Gene Disorders Table of Contents Introduction2 Introduction Genetics is the study of hereditary –A parent passing certain genes onto their offspring– as well as the variation of inherited characteristics. Specific traits can be expressed in the offspring due to the genes that were inherited from both parents. These genes can cause the child to possess particular physical traits such as hair and eye colour, however, they also have the ability to carry diseases and disorders. Genes are made up of DNA and contain instructions that help the production of specific proteins. Proteins are built through the process of protein synthesis. Protein synthesis begins in the cell’s nucleus where certain enzymes unwind the sections of DNA needed. Then the first step of protein synthesis, transcription, can be completed. Transcription is the process of a segment of DNA being copied into RNA (Ribonucleic acid) by an enzyme called RNA polymerase. Translation is the second step of protein synthesis. Translation occurs when the messenger RNA is decoded and then used to create the sequence of amino acids in a polypeptide chain. When a segment of DNA is damaged or the genetic message a gene carries is altered, it is called a mutation. Gene mutations can be inherited from parents or acquired due to environmental factors. Acquired mutations cannot be passed down or inherited. Gene mutations are the cause of single gene disorders. When a specific gene is known to cause a disease, it is referred to as a single gene disorder. Tay-Sachs disease is a single gene disorder that destroys nerve cells in the brain and spinal cord. Tay-Sachs disease is lethal in children and generally causes death by the age of five. Is there a possibility that these deaths could be prevented in the future due to biological theories such as CSIRO? Background Theory, Literature Review Tay-Sachs disease is caused from the absence of hexosaminidase-A (Hex-A), an enzyme that prevents GM2 ganglioside –A fatty substance- from abnormally accumulating in cells. This ongoing accumulation destroys neurons in the brain and spine. This disease stems from a defective DNA segment found in the HEXA gene on chromosome 15. If CSIRO (genetic modification) is put in place then there is a possibility the defective segment could be located, removed and replaced with a functional segment of DNA. This would cause the HEXA gene to produce enough Hex-A to prevent an abnormal amount of GM2 ganglioside. Body Tay-Sachs can be caused by many different types of mutations as long as they occur in the HEXA gene on chromosome 15 and prevent the Hex-A enzyme from being produced. The most common mutation is insertion mutation. Conclusion If more research is applied to genetic modification then it could possibly be the cure to Tay-Sachs. Bibliography There are no sources in the current document. http://learn.genetics.utah.edu/content/disorders/singlegene/ https://www.news-medical.net/life-sciences/What-is-Genetics.aspx https://ghr.nlm.nih.gov/primer/basics/gene https://www.news-medical.net/life-sciences/What-are-Genes.aspx https://www.biology-online.org/dictionary/Translation www.brooklyn.cuny.edu/bc/ahp/BioInfo/MUT/Mut.Definition.html https://ghr.nlm.nih.gov/primer/mutationsanddisorders/genemutation https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0024672/ https://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease https://www.quora.com/What-type-of-mutation-causes-Tay-Sachs-disease