Mutation

different MECP2 mutation and can have some developmental delay. Rett Syndrome has an unknown etiology, perhaps because of the lack of bulk investigations available. According to Pellock, there is a mutation on the X chromosome which affects the methyl-CpG-binding protein 2 (MECP2). There are also other mutations that can cause atypical or congenial Rett Syndrome such as mutations in the CDKL5 and FOXG1 genes. These cases may be caused by partial gene deletions, different mutations of MECP2…

Ethyl-Methanesulfonate Biology Lab 10501 November 30th, 2016 Lab Group: Drew Garza, Brock Morgan, Christian Chen, Daniel Lee. ABSTRACT INTRODUCTION Mutations are permanent changes in DNA sequence that makes up a certain gene that are caused by environmental factors or when DNA is copied in the replication phase. Mutations can range in various sizes and can affect any part of the DNA sequence. In our lab we dealt with Ethyl Methanesulfonate (EMS) and Sega…

is made up of 37 genes that are inherited only from our mother’s DNA, and as with the human genome, genetic mutations within the mitochondrial DNA are possible. A mother can easily pass any mitochondrial DNA mutations to her offspring. Certain mutations can cause rare, devastating diseases like LHON, Pearson Syndrome, and Leigh Syndrome. Scientists have also linked mitochondrial DNA mutations to more common diseases such as diabetes, Alzheimer’s disease, and Parkinson’s disease (SciShow). The…

distinctive facial features including a broad, prominent forehead; deep-set eyes; and a small, pointed chin” (NIH, 2016). This disease is associated with other diseases such as pulmonic stenosis and tetralogy of Fallot. “In more than 90 percent of cases, mutations in the JAG1 gene cause Alagille syndrome. Another 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20 that include the JAG1 gene. A few people with Alagille…

fingernails, short limb dwarfism, and over half the cases have shown congenital heart defects. Ellis-Van Creveld syndrome is associated with abnormalities or mutations in two genes on the number 4 chromosome. This syndrome is inherited as an autosomal recessive genetic condition, which means both copies of the gene in each cell have mutations. The parents of a child with an autosomal recessive condition each carry one copy of the mutated…

In the article "Schizophrenia begins in the womb, study suggests" by Honor Whiteman on the Medical News Today discusses the research devoted to Schizophrenia. The article talks about the abnormal gene labeled FGFR1 that can impair brain development early on. The scientists believe that this research could then find treatments and maybe prevent schizophrenia in the utero. Treatments such as giving pregnant women a drug that could prevent the process developing in the fetus. They discuss that…

before transplantation. This repair introduces DNA and RNA into stem cells to correct the mutation. A clinical trial, currently in progress, is the modification of the β-globulin gene with an anti-sickling gene in the laboratory. This gene is then transplanted back into the patient’s bone marrow. If successful the patient’s bone marrow will produce normal hemoglobin. To correct the inherited genetic mutation, there are currently studies utilizing the use of induced pluripotent stem cells…

This paper explores four published articles and four internet websites pertaining to Phenylketonuria. In this paper Phenylketonuria causative mutations, signs and symptoms along with treatment and long term prognosis are discussed to help individuals better understand Phenylketonuria and its effects on our population. Increasing public awareness towards Phenylketonuria can help lead to further research in hopes of medical advancements and encourage newborn screening in under developed countries.…

In the movie GATTACA, Andrew Niccol illustrates his perspective on genetics. Vincent a “Faith Born” meaning he was born with no genetic impurities or modifications, is launched into a world where everyone can be identified through certain tests of any part of the body. Vincent is considered “invalid” to the GATTACA space program and decides to pay someone on the inside for his DNA, so he may pass inspection. The person on the inside is Jerome. Jerome gives Vincent his DNA so he may achieve his…

Marfan syndrome is a strange disease. It is genetic, and it is very rare. Sadly, it makes leading a normal life harder. On the plus side it can be treated. Marfan syndrome is a disease that affects your connective tissue. Organs and eyes are not held in the correct position and fingers, toes, arms, and legs seem too long for their body. It also can limit the gripping ability in their hands. This disease is not contagious. It is inherited genetically because of nitrogen bases matching…