GENETICS UNIT 7 (Unit 7: Genomics and Genetic Engineering) - Assignment Example

Genomics and Genetic Engineering Genomics and Genetic Engineering Bloom Syndrome Various advancements continue to take place around the world. Some of the advancements have helped in the advancement in the field of science. The most-significant advancement in the field is the study of the human genome (Pierce, 2012). The development has led to the discovery of diseases emerging from changes in human genome. One of such conditions is bloom syndrome. A reflection of bloom syndrome helps in understanding its link to mutation, symptoms, discovery, and possible application of genetic engineering technology on the disease.
Mutation has been a significant concept in the world of genetics. Mutation is described as a permanent transformation in the nucleotide arrangement of a genome (National Center for Biotechnology Information (NCBI), 2002). The most-common form of mutation is point mutations (NCBI, 2002). The other form of mutations involves insertion or deletion of single or a group of nucleotides (NCBI, 2002). Mutations rise due to two common errors. The errors occur in the process of DNA replication or from the harmful effects of mutagens (NCBI, 2002). Mutation has a major influence on DNA replication. Mutation results to the changes in the genome that are transferred to the complementary strand in the replication process (NCBI, 2002). Hence, the process leads to the emergence of new polynucleotides at the replication fork (NCBI, 2002). In the replication process, there will be a new version of DNA that is permanent due to the mutation. Moreover, some mutation leads to structural change that affects base-pairing ability of the changed nucleotide.
The most-important innovation was the discovery of the relationship between mutation and bloom syndrome. The discovery helped in understanding of the condition. The discovery was done through genotyping of families that were affected. The process helped in identifying linkage between BLM and FES (Ellis& German, 1996).
There are various symptoms of the disease. First, individual affected by the condition depicts short stature, sensitive skins to the sun, and an increased risk to developing cancer (Genetics Home Reference, 2010). Secondly, individual with a condition depicts low birth weight and length. Such individual show stunted level of growth as compared to other members of the family. Moreover, individuals affected normally have dilated blood vessels and reddish skin. The skin change is usually associated with continued exposure to the sun (Genetics Home Reference, 2010). Furthermore, the onset of cancer in the individual occurs early and often such person develops more than one type of cancer (Genetics Home Reference, 2010).
Problems in DNA replication are responsible for the bloom syndrome symptoms. The problems arise from mutations in the BLM gene (Genetics Home Reference, 2010). The gene is responsible for the formulation of RecQ helicases that binds to DNA. The binding helps in temporal opening of the double helix of the DNA molecules (Genetics Home Reference, 2010). Hence, mutation in the BLM gene stops the BLM from performing normal process responsible for maintaining genomic stability. The changed reversal of BLM protein activity leads to increased sister chromatid exchange. The changed frequency is a show of weakness of chromosome. The weakness is linked to gaps and breaks in the genome that leads to abnormal cell activities that cause health challenges associated with the condition (Genetics Home Reference, 2010).
Genetic engineering can help a lot in learning and understand the bloom syndrome. The learning process can be possible through creation of animal models of human diseases. The models can be used in studying the biological aspect of the condition. Moreover, the model may be used to show the efficacy of replacing the defective human genes with the genes that are functional (Pierce, 2012).
References
Ellis, N & German, J. (1996). Molecular genetics of Blooms syndrome. Retrieved from http://hmg.oxfordjournals.org/content/5/Supplement_1/1457.full.
Genetics Home Reference. (2010). Bloom syndrome. Retrieved from http://ghr.nlm.nih.gov/condition/bloom-syndrome.
National Center for Biotechnology Information. (2002). Genomes. Retrieved from http://www.ncbi.nlm.nih.gov/books/NBK21114/.
Pierce, B. (2012). Genetics Essentials: Concepts and Connections. New York: W. H. Freeman. Read More