The Human Genome Project Chromosome Abnormality

The Human Genome Project was the global, collaborative research program with the main purpose of completing the mapping and comprehension of all the genes of human beings. In delineation, genome encompasses all of the genes put together (National Human Genome Research Institute, 2018). The undertaking of the Human Genome Project has permitted researchers to start to comprehend the scheme and outline for building a person. With the progression and advancement of learners gaining more information regarding the functions of genes as well as proteins, this insight will have significant influence in the fields of life science, medicine as well as biotechnology (National Library of Medicine, 2018). The major accomplishment of the Human Genome Project is that in 2003, researchers made the proclamation that the Human Genome Project had finished a sequence of high quality of fundamentally the whole human genome. In addition, this sequence filled the holes from a working draft of the genome, which was circulated in 2001. Furthermore, it pointed out the locations of several human genes and made available information regarding their structure as well as organization. In overall, the Human Genome Project made the sequence of the human genome and tools for the analysis of data to become more easily accessible through the internet (National Library of Medicine, 2018).
The key objectives of the Human Genome Project were to provide a comprehensive and precise sequence of the 3 billion DNA base pairs that constitute the human genome and to obtain all of the projected 20 to 25 thousand human genes. In addition, the project purposed to categorize the genomes of numerous other organisms that are significant to medical research, for instance the genome of the mouse. On top of DNA sequencing, the Human Genome Project endeavored to develop new approaches for obtaining and examining the data and making such information extensively accessible. Furthermore, owing to the reason that progressions in genetics have an impact not only on individuals but also the society at large, the project dedicated itself to examining the significances of genomic research by means of its Ethical, Legal, and Social Implications (ELSI) program (National Library of Medicine, 2018).
There are different diseases that are associated to chromosomes abnormally. One of the disorders is referred to as the Jacobsen Syndrome, which is also termed as the 11q deletion disorder. Imperatively, this disease comes about owing to a loss of genetic material from the end of the long arm of chromosome 11. There are different indication and symptoms for this disease and they fluctuate from one individual to another. However, most of the individuals suffering from this disease experience hindered development in motor skills and speech, problems in learning, cognitive impairments in addition to other behavioral problems. A second disease is referred to as the Turner syndrome. This disorder comes about when one of the two X chromosomes within females is either incomplete or is missing altogether. The most prevalent signs of this illness take into account short stature in addition to gonadal dysgenesis, a condition that can lead to incomplete sexual development, failure of the ovaries and even worse infertility. Another disease that is related to chromosomes abnormally is Trisomy 16. In delineation, fully Trisomy 16 takes place when a person has three replicas of chromosome 16 rather than the normal two that most people have. This disorder is the most prevalent chromosomal basis of miscarriage in the course of the first trimester during a female’s pregnancy. On the other hand, Mosaic Trisomy 16 is an illness that is considerably uncommon and takes into account having an additional chromosome 16 existent in a number of cell, however not all of them. Some of the prevalent symptoms of this illness comprise of congenital heart deficiencies and also intrauterine growth retardation (Friendship Circle, 2012).
References
Friendship Circle. (2012). 13 chromosomal disorders you may not have heard of. Retrieved 17 July, 2018 from: https://www.friendshipcircle.org/blog/2012/05/22/13-chromosomal-disorders-youve-never-heard-of/
National Human Genome Research Institute. (2018). An Overview of the Human Genome Project: What was the Human Genome Project? Retrieved 17 July, 2018 from: https://www.genome.gov/12011238/an-overview-of-the-human-genome-project/
National Library of Medicine. (2018). What were the goals of the Human Genome Project? Retrieved 17 July, 2018 from: https://ghr.nlm.nih.gov/primer/hgp/goals