Deletion

parental DNA can still be passed on to their offspring. While theoretically possible, female manifestation of Barth Syndrome is highly unlikely; however, one notable case was recorded in 2012. The patient possessed deletions of exons 1-5 in the first chromosome and additional significant deletions in the second; symptoms included severe dilated cardiomyopathy and severe growth deficiencies at one month of age. While carriers of the gene do not display the mutant phenotype, these individuals have…

standard score of 81 with a percentile rank of 10. L.R’s errors are within lower range when compared to children of his chronological age. Based on the findings of the GFTA-3, L.R. presents with an articulation disorder, characterized by final consonant deletion, vocalization, gliding of liquids, omissions, and consonant cluster reduction. Oral Motor Function A cursory oral peripheral examination was conducted to ensure adequate strength and integrity of the articulators. L.R.’s facial and oral…

(lacking exon 7) and TAZ-Δ5;7 (lacking exons 5 and 7), TAZ-Δ5 is most common (Gonzalez 2005). Mutations in TAZ may be found in each of its exons and introns. The mutations include single nucleotide substitutions, insertions, partial gene deletions, large deletions of several exons, partial gene duplications and splice site mutations (Aprikyan and Khuchua 2013). Mutations in TAZ are associated with Barth syndrome (BTHS), an…

genes can cause cancer ○ Explain the role of Tumor Suppressor Genes when functioning normally. The tumor suppressor gene controls Ras genes and P53, it slows cell division ○ What are the mutations that can occur in those genes? Missense, Nonsense, Deletion, Insertion, Substitution, Inversion, Duplication ■ How do those mutations cause cancer? Chromosome rearrangements: Changes in chromosomes that put one gene next to another, which allows one gene to activate the other Gene duplication:…

First, you said only one eye has leukocoria in this infant. Leukocoria is a common clinical feature of retinoblastoma, and this indication is usually a late sign of the disease (Balmer et al., 2006). Retinoblastoma can be either a hereditary disease and a nonhereditary disease. Generally, 60% of the cases of retinoblastoma are nonhereditary, with the remaining 40% being hereditary. Usually, 25% of the hereditary cases have family disease history, which is what we have in this case (NORD).…

This essay provides a brief description of Familial Adenomatous Polyposis (FAP), a mutation on the APC gene (Cleveland Clinic, 2016, pg. 1). It discusses the beginning ages for FAP and some genetic testing options for said disease, including how accurate such tests are. The remaining portion of this paper explores my stated opinion on whether or not adolescents should be tested for late-onset genetic diseases, such as FAP. A Brief Description of Familial Adenomatous Polyposis (FAP)…

If both parents have alcoholism, will their children have alcoholism, too (nature vs nurture)? If both parents have alcoholism, it does not necessarily mean that their children will have alcoholism. Inherited biochemistry affects alcohol metabolism. There is no specific gene for alcoholism. However, the alleles that make alcoholism have been identified on every chromosome except the Y. Each individual is different, they're reaction to alcohol may be different from others. Both parents metabolism…

disorder affecting the motor neurons located in the spinal cord and brainstem responsible for muscular movement (Reference, Genetics). Genes accountable for the production of survival motor neurons (SMN) proteins, the SMN1 and SMN2, suffer mutations or deletions in their genes (Reference, Genetics). This causes atrophy and weakness in muscles used for motor functions (Reference, Genetics). As shown in Figure 1, the effects of this disorder are drastic and produce extremely detrimental outcomes…

interfering with the DNA’s chemical bonding. It is possible that the error is due to DNA replicating “if DNA polymerase does not catch its own error” (“Mutations,” n.d.). There are three types of point mutations, which are substitution, insertion and deletion and each one is the byproduct of the change concerning a single nucleotide base in DNA. Therefore, influencing the proper execution of the process of protein synthesis. The least harmful point mutation is substitution and influences a…

obscure places so that they can be tracked in the event that security is somehow bypassed. Finally, we address the issue of user error such as the deletion or erasure of files. Although we cannot complete prevent such issues from occurring, proper training programs will help to mitigate these issues. For the rest that slip by, such as accidental deletion of key site files and folders, we mitigate this risk by performing full back-ups and can restore almost any amount of data within a short…