Missense mutation

in 1999 which showed that a mutation in methyl-CpG binding protein 2 (MECP2) was to blame for this disorder (Chahrour & Zoghbi, 2007). In almost 95% of cases mutations in MECP2 are found with most arising from sporadic de novo, or new, mutations. Approximately 70% of all MECP2 mutation are either missense or nonsense, a mutation of nucleotides that leads to premature truncation of the gene by means of a premature stop codon, mutations. Missense mutations are mutations in one nucleotide that in…

Mutation in the silencing gene SIR4 can delay aging in S. cerevisiae Gene mutations that affect silencing at HM loci, telomeres and other regions of the chromosome have been shown to relate to stress resistance and aging in Saccharomyces cerevisiae. S. cerevisiae is a species of yeast in which goes through asymmetrical cellular division. Its lifespan is measured by the number of cellular divisions the mother cell is able to complete before death. In the research study by Kennedy et al, the…

Randomness and chance are also involved in genetic variation, and both harmful and beneficial mutation. Genetic variation contributes to the diversity of genes in a population.11 For example, eye colour, skin colour, ear shape, hair colour all vary differently in humans.11 The Hardy-Weinberg Principle is a method for geneticists to study genetic variation and evolution. It is a model that predicts the outcome and offspring of a non-evolving population. This model is then compared to an existing…

So what this means is that an individual would need two of the sickle-cell mutations in order to have their red blood cells take the sickle cell shape. So, since oxygen is no longer able to get to places as effectively, sickle cell disease may result in shorter lifespans. When a genetic trait can be fatal, it will typically be taken…

The first time I learned about structural biology was when I took Comprehensive Biochemistry I during my senior year at University of Maryland, Baltimore County. What was intriguing was how quickly I learned the concepts, and how easy it was for me to see conformational changes in three-dimensional space. I have always been a visual-oriented person, and until senior year of college I found that it was hard to find areas of research in biochemistry that utilize a person’s ability to analyze…

The next morning on that brilliant, lucid Sunday in Mohawk Park, Surina watched as Neilan Trahern arranged the chairs neatly in front of the globe fountain in preparation for the welcoming ceremony on Monday. Indeed, the weekly welcoming ceremonies kept the General Assembly Hall staff busy every Monday and Tuesday. Stefan raced up the steps as soon as he glimpsed Surina waiting by a Doric column in the shade of the portico. After entering the building, they went down a long corridor to the…

evolved into many ideas and ways an organism can involve. Darwin’s basic definition of evolution is that Evolution is how various organisms around the world had a common origin and that any differences that one can see today are through genetic mutations that occur in the eggs or sperm of an organism. Different ways Evolution can occur is through Natural Selection, Genetic Drift, Bottlenecking, Gene Flow, Survival of the Fittest, and…

When genetic disorders are discussed, both in popular culture and in medicine, they are viewed as negative ways, and for obvious reasons: many genetic disorders, like the one Sierra has, can easily kill or seriously inhibit a person from living a “normal life.” Throughout recent medical history, there has been a lot of focus on learning new ways to control or treat certain genetic conditions. In fact, the entire discussion of how to treat genetic disorders can be brought back to our class…

Preimplantation genetic testing is a genetic technique in which cells are removed from embryos to examine chromosomal abnormalities in vitro fertilization before a woman gives birth (King). Embryos made through in vitro fertilization would face genetic modification to avoid passing the defects onto future generations. After modification, only embryos free of abnormalities would be placed into the mother’s womb. This technique is targeted for parents who have a high risk of passing a fatal…

Literal Shit IVF stands for in-vitro fertilisation and is usually used to treat a variety of infertility problems, but can also screen embryos for genetic disorders (PGD) in normally fertile couples. It was originally developed to treat infertility caused by blocked or damaged fallopian tubes. IVF was the first assisted reproductive technology and therefore has the most experience behind it (over 20 years). PGD stands for pre-implantation genetic diagnosis and the testing can increase both the…