The Human Genome Project and Chromosome Abnormality, Essay Example

The human genome project was instigated in the year of 1990, with the intension to map up to 3 billion DNA base pairs. The projected was expected to last up to 15 years when the initial funding was delivered to complete the project’s objective by the year of 2005. The recent progress made in technological disciplines shortened the expected time period for this project. The main purpose for this project is to generate a DNA classification that would be structured and arranged in library for a descriptive sample of the human genome.

Conceiving a reference library for DNA samples would in the long run prove to be priceless resource for future research, as well as an applied perception. The reference library or collection of DNA would then assist in the documentation of specific mutations that tend cause distinctive diseases or disorder. It is established that if the normal base pair of the human genome can be substituted in the place of an abnormal one, then the use of gene therapy can become a reality. The Human Genome Projects had the main purpose to create a highly accurate and correct reference order of the human genome (Collins & Mansoura, 2001).

Research shows that human genome comprises one compound, that is, DNA. The DNA is fundamentally consists of a sequence of varied base pairs, that is, cytosine, adenine, thymine and guanine. They are organized in a double helix structure assigned with the main task of ultimately stimulating tissue differentiation and directing cell function. The mapping of the sequence DNA may in the end display the position and structure of all of the related base pairs existing in a human genome. The project is expected to increase the level of accuracy of identifying the DNA sample, depicting a margin error of 1 in every 10,000 base pairs. The immense majority of human DNA is comparable from one person to the other showing differences in occurrences at only precise sections. The Human Genome Project aims to map up to 80,000 human genes to an exact chromosomal location earlier to its accomplishment (Collins & Mansoura, 2001).

Chromosome abnormally diseases are genetic disorders that occur when a big portion of the human genetic code is disrupted. Chromosomes simply are the long sequences or structures of the DNA that comprise of hundreds or even thousands of genes. The diseases related to Chromosome abnormally are described and explained below:

Downs Syndrome

Downs Syndrome is a chromosomal disorder that tends to cause physical abnormalities and intellectual disability. In most circumstances, the disease is triggered by an added copy of the chromosome 21. Kids with the disorder often tend to have a delayed mental and physical development during their growth. Some of these features affect the head or facial features of the kid and they are sometimes short. The identification of this disorder can be seen in the kids  physical appearance and can subsequently validated through lab testing to find the extra copy of the chromosome 21 in the kids blood sample. Most children affected with the disease – Down syndrome, often live or survive to see adulthood.

Turner Syndrome

The Turner syndrome is a disease in which the child girls are often born having one of their two X chromosomes partly or entirely missing. This often happens as a result form the incomplete formation or the complete deletion of the X chromosomes, probably one of the two. Girls that suffer from Turner syndrome are normally have loose skin on the backend of their necks, are usually short, experience the inability to undergo puberty, and have the problem of learning disabilities. The diagnosis for this syndrome is validated through analyzing the chromosomes and establishing the presence of the disease. The treatment approach for handling this disorder is by using hormones that can stimulate puberty and promote growth.

Noonan syndrome

The Noonan syndrome represents a genetic disorder which occurs as result of a number of physical deformities in the human genes. It comprises of features that depict a short stature, abnormal appearance and even heart defects. Noonan syndrome can be congenital or hereditary as a consequential outcome resulting from spontaneous gene alteration or mutation in a child. The child’s parents may have normal genes, though; one of numerous and varied genes might be involved to causing the Noonan syndrome. It is rather common since both girls and boys can be affected by it. There is no existing cure for the disease. However, certain exact problems or symptoms caused by the disorder be treated through constant monitoring by doctors to restore heart defects as required. Growth defects can be treated through the use of growth hormones.

References

Collins, F. S., & Mansoura, M. K. (2001). The human genome project. Cancer,91(S1), 221-225.