Abstract
In 2003, one of the most historic projects in modern medicine was completed, which laid out our genetic blueprint. The Human Genome Project resulted from the culmination of decades of work which includes the discovery of the double helix of deoxyribonucleic acid (DNA) and creation of laboratory tools for DNA mapping and sequencing. The human genome is made up of roughly 20,500 genes—far fewer than the initial estimates of 100,000 or more. These genes are comprised from nearly three billion A-T and G-C base pairs. A single-nucleotide mutation can equate to a nonsense mutation, leading to transcription of a premature stop codon and ultimately a nonfunctional protein. These nonfunctional proteins are known to cause disorders such as Duchenne’s muscular dystrophy (DMD), which results from an incomplete copy of the dystrophin gene being transcribed and then translated into a defective protein product which is vital to the muscle fiber cell membrane [1].
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References
https://www.genome.gov/10001772/all-about-the--human-genome-project-hgp/
https://www.genome.gov/12011238/an-overview-of-the-human-genome-project/
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Irvine, J. (2018). Longevity and Epigenetics. In: Wright, V., Middleton, K. (eds) Masterful Care of the Aging Athlete. Springer, Cham. https://doi.org/10.1007/978-3-319-16223-2_18
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