Missense mutation

Introduction: Epilepsy is one of the most common neurological disorders observed approximately in 1-3% of population, it has affected around 70 million people worldwide and nearly 90% of them are found in developing regions (Ngugi et al; 2010). The corresponding figure for India was estimated to be more than 12 million with 1% prevalence contributes nearly one-sixth of the global burden (Senthil Amudhan et al., 2015). Epilepsy is a brain disorder characterized by an enduring predisposition…

notably genetic syndromes, such as BRCA1 mutations which are involved in 10% of OC cases. This essay will present the mechanisms by which OC develops, the symptoms that are produced and how the condition is diagnosed, as well as treatment options culminating in a prognosis for affected individuals, such as Abbi Taylor in our case. Development of OC The development of ovarian cancer can be attributed to genome mutations, which is the case with Abbi. Genetic mutations in tumour suppressor genes,…

Molecular testing does have the potential to lead to an early confirmation of Rett syndrome in an infant girl. Molecular testing would identify any MECP2 gene mutation. There are more than 200 different MECP2 mutations and in patients with classic Rett syndrome there is a 90% detection rate (Smeets et al., 2012). Often patients diagnosed with Rett syndrome show symptoms of autism and it is not unlikely that a patient could have both autism…

28. a) A structure that was made if two chains of nucleotides, each in a helix, with each chain running parallel to each other. Also proved that the nucleotide bases could pair up in only one way based on Chargaff’s rule. b) Franklin’s x-ray diffraction photographs showed that the wet form of DNA likely had a double helix. Wilkins showed Watson Franklin’s results and at the time Watson and Crick were experimenting with many potential models of having 1,2 or even 2 strands. As soon as Watson saw…

What is Tay-Sachs Disease Tay-Sachs disease is an autosomal recessive genetic disorder that was first witnessed by Waren Tay in 1881. The disease is named after Waren Tay and Bernard Sachs, both contributed to the discovery of the disease in the late 1800’s. Tay witnessed a “cherry-red” spot on the on the retina of the eye, which is a spot observed when the fovea’s center is surrounded by a white halo. Bernard Sachs witnessed that the disease was mostly prevalent in the Ashkenazi Jewish…

IRISH TERRIER ORIGIN AND HISTORY The Irish terrier is one of the older terrier breeds. Its solid red coat and long, sleek body distinguish it from other terriers. Earlier Irish terriers were black and tan, grey and brindle with the solid reds appearing at the end of the 19th century. In 1879 Champions Erin and Kilney Boy appeared at a show in Glasgow and are considered the mother and father of the breed. During that era the Irish terrier was one of the most popular breeds both in England and…