According to Palladino (2006), the Human Genome Project (HGP) was a scientific research project carried out internationally for thirteen years. This project was initiated by the U.S government with the support of other contributors such as public and private researchers with the goal of tracing and mapping nucleotides as found in the human Haploid Reference Genome. In other words the project was driven by the need and interest to collect information about the human genome. In this regard, the project was carried out in order to determine the sequence followed by chemical base pairs which are responsible for the formation of an individual’s DNA as well as identify the human genes from the genome while taking into consideration both physical and functional perspectives (Palladino, 2006).In this case, the project aimed at finding the approximately 20,000 to 25,000 human genes. Moreover, the HGP sought to sequence the genomes of other living organisms important to research such as the mouse and the fruit fly.
The processes involved in the project took into consideration bioinformatics that is geared at identifying boundaries established between genes and other body elements in a process referred to as genome annotation (Claybourne, 2006). With this information, scientists can understand the makeup of human beings from the data collected in the project. The project was completed in 2003 and was seen as a significant feat in the field of medicine and genetics as it has provided vital information that has been used to understand diseases and develop new treatments(Palladino, 2006).
In relation to other genetic research studies, the HGP committed to evaluating the consequences of genomic research in relation to Ethical, Legal, and Social implications of this activity. As such, the project sought to address the four main issues as identified below:
Assurance of privacy and fairness in relation to the use of genetic information
Integration of new and related genetic technologies in clinical medicine
Ethical considerations in both the design and implementation of genetic research
Education of the public and healthcare professionals on genetics and emerging issues from relevant research.
Chromosome Abnormalities
Down Syndrome
This syndrome is also referred to as trisomy 21 is caused by the presence of an extra copy of chromosome 21 (Genetic Science Learning Science, 2013). As such, individuals suffering from this disorder have three copies of the same chromosome. As a result, their bodies are not able to control the amount of protein that is produced in their bodies. The consequences of insufficient or overproduction of protein causes adverse effects on the affected individual.
47 XXY (Klinefelter) Syndrome
Almost all male individuals have the chromosomes XY (46, XY) while female persons have two X chromosomes (46, XX). However, in some instances, some individuals have two X chromosomes as well as the Y chromosome (47, XXY) indicating they have both genetic chromosomal dispositions. In such cases, such individuals are identified as genetic males. In addition, they develop subtle characteristics associated with either sex, an aspect associated with Klinefelter Syndrome. A small portion of individuals develop as intersex, that is, as being both male and female. In most instances, individuals develop the associated characteristics around their pubertal stages in which case they develop their gender identity and where their sexual development takes place.
Turner Syndrome
According to Genetic Science Learning Science (2013), this syndrome is caused by an incomplete or missing X chromosome. As such, individuals suffering from this ailment develop as female. In this regard, the X chromosome is essential for growth and sexual development. As such, females suffering from this illness tend to be shorter than compared to others of the same age.
References
Claybourne, A. (2006). Genetics. London: Evans Publishers.
Genetic Science Learning Center (2013). Chromosome abnormalities. Retrieved from http://learn.genetics.utah.edu/content/disorders/chromosomal/turner/
Palladino, M. A. (2006). Understanding the human genome project. San Francisco: Pearson/Benjamin Cummings.
