Mutation

Ectodermal Dysplasia Jonathan Moon American Fork Junior High A2 2/24/17 Abstract Ectodermal Dysplasia is a group of conditions that interfere with the normal functions of skin, hair, nails, teeth or sweat glands. These abnormalities cause various issues with everyday activities such as eating, brushing hair, exercising, and blinking. This paper will explain how this disease occurs, its symptoms, diagnosis, and treatment. Causes of ED Ectodermal Dysplasia, or ED, is a genetic disorder that…

genetic mutations that occur during Meiosis or replication are not passed genetically to offspring. Though there are some genetic disorders that occur during replication or Meiosis that are passed onto offspring not all are. Some non-inheritable disorders are due to random events that occur in reproductive cells. An example of an event in a reproductive cell is the gain or loss of chromosome. All changes in somatic cells however are never heritable. Angelman syndrome is a genetic mutation that…

Treacher Collins is a genetic disease that is passed through either a mutation happening when the DNA is being split or one of the parents has the gene in their DNA. There is no cure for Treacher Collins right now. Treacher Collins affects the cranial aspect of the upper body. In some extreme cases, breathing and eating ways are affected so much that the child has to have a trach put in to help it breath normally. A feeding tube is put in so the child can get the nutrients and substance that it…

Insensitivity is a genetically transmitted disorder, also known as hereditary sensory and autonomic neuropathy type four. When both parents carry the gene mutation, there is a 25% chance the child will inherit the disorder during the pregnancy of the mother. Congenital insensitivity is causes by a mutation in the SCN9A gene, and even the slightest mutation of the gene leads to the gene not being able…

is similar to retinitis pigmentosa (RP) in human. RP is transmitted in different modes—autosomal dominant, autosomal recessive, X-linked, and digenic—as well as maternally ). PRA show several modes of transmission and a large number of genes and mutations are involved. Age-at-onset and rate of progression of disease differs between breeds. Some breeds experience an earlier onset than others and other breeds do not develop PRA until later in life.…

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…

Essay plan Introduction - it is a question why some women refuse to accept invitation for breast cancer screening Body Global incidence - cancer as a second most common type of cancer -high rate of breast cancer in high income countries Breast compression - why is necessary, mammography process explanation Risk factors – age - cancer increases with age and why -genetic factor-breast cancer in the family Advantages of breast cancer…

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…