Mutation

Sickle Cell Anemia: Case Study of the Effects of Mutation Sickle Cell Anemia: Case Study of Effects of Mutation By Aminat, Ojikutu Department Biology Grambling State University Outline Abstract.........................................................................................................3 Introduction..................................................................................................4 Background.........................................................…

Common tumors are often caused by mutations in the genes that may potentially lead to varying protein structures, which do not correlate with their proper functions (1). Majority of these mutations arise as a result of substituting one nucleotide base pair for another, but a significant number are also from adding or removing one of more of these nucleotides that ultimately disrupts protein translation (1). One of the mutated genes linked to cancer is BRCA1 (2,3,4). BRCA1 stops tumor growth by…

Muckle-Wells syndrome is primarily caused by a mutation on the NLRP3 (also called CIAS1) gene which is responsible for coding for the protein Cryopyrin. Cryopyrin is a type of protein which is called a nucleotide-binding domain and leucine-rich repeat containing protein. A major part of the innate immune…

One result of random genetic drift and gene substitution is mutant alleles, however the probability that these mutations become fixed in a population is not solely dependent on the advantageous nature of the allele, rather the probability of fixation is determined by the allele frequency, the selective advantage or disadvantage, and the effective population size. The probability of fixation for a particular allele is demonstrated by the equation where probability is equal to 1 minus the…

poorly defined (Qi et al., 2012). A number of specific mutations…

specific DNA changes caused by the delta F508 mutation, include a production of the abnormal cystic fibrosis protein. This mutation can only be inherited if both genes in pair of DNA carry the cystic fibrosis mutation. The specific mutation functions as a chloride channel, that has an abnormal amount of salt and water balance. Normally a chloride channel would help to maintain the right balance salt and water inside a cell, but those mutated with F508 mutation, are imbalanced causing dehydration…

Mutations are random permanent changes in the genome of an organism that may or may not result in phenotypical variation. Mutations can be stimulated by external events such as exposure to ionizing radiation as well as internal events such as errors in DNA replication like double strand breaks. In lab, we focused on mutations that exhibit phenotypic advantage or disadvantage to an organism in their respective habitats. The necessity of higher or lower mutation rates will vary based on whether…

Mutations are the building blocks of species evolution, without which homo sapiens would never have existed. Mutations appear randomly in individuals of every species and can be harmful, beneficial, or have no change on the individual’s ability to survive and reproduce. Harmful mutations can cause the organism to fail at reproducing which deletes that mutation from the population’s gene pool. Beneficial mutations have the opposite effect, resulting in a higher frequency of the specific mutation…

BRCA1 and BRCA2 genetic testing, should everyone do it? Shahrzad Eslamian Purpose: For a person with a positive mutation in BRCA1 or BRCA2, the chance of getting breast cancer increases by 50-60 percent.1 This causes concern for some women and makes them take a BRCA1/2 mutation test to make sure they are not carrying this mutation. In September 2015, a research from UCLA was published that indicated some debate over whether or not testing BRCA genes is worth the cost.4 This paper will be…

concepts: mutation and gene expression. To give the reader the molecular basis for genetic disorders, mutation is briefly addressed. Lewis gives two different examples of mutations- specifically, the mutations that Nancy and Ethan gave to Corey. Ethan’s mutation is one in which “one DNA base subs for another, like a one-letter typo” (Lewis, 2013, p.27). The “base” that she is referring to is a nitrogenous base of a…