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

Download file to see previous pages... 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 ...Download file to see next pagesRead More