Essay on Marfan Syndrome: The Case of Joey Jones

The number of repeat on Genomic DNA fragment #1 is 22 and on Genomic DNA fragment #2 is 26.

Devil’s Arithmetic Compare and Contrast Essay The novel and movie The Devil’s Arithmetic have many differences and similarities. One thing is for certain, the theme in both the book and the movie is the same. There were some major similarities between the Devil’s Arithmetic movie and book.

This genetic material is known as deoxyribonucleic acid, or DNA. Different genes of those variations are known as alleles (Upadhyaya, 2017). Alternating forms usually result in the traits, either recessive, and dormant or dominant and visible. The primary technique used in this experiment is that of DNA fingerprinting and it uses the information stored in the alleles and genes to identify the individuals. DNA fingerprinting is the characterization of an individual’s genomes.

Aziz, N., Qin, Z., Bry, L., Driscoll, D. K., Funke, B., Gibson, J. S., & ... Voelkerding, K. V. (2015). College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests. Archives Of Pathology & Laboratory Medicine, 139(4), 481-493 13p.

Many people believe The Charter of Rights and Freedoms, founded by Pierre Elliott Trudeau benefited and became the base for our country’s foundation. It is believed by many, that the Charter created individual rights and freedom. However, while all this may be true, I will argue that the Charter of Rights and Freedoms negatively impacted Canada, and that Canadians are still feeling these effects today. I will also examine the Charter did more harm to Canadians than good. The Charter Rights and Freedoms affected the operation of trials along with judiciary powers, multiculturalism and provincial rights, which undermined Canadas intended democracy and de-centralized government.

40 mutations and 4 polymorphisms can be detected by the Tag-It 40+4 Luminex-based reagent system. There were two mutations that were removed from the 25 mutation original panel though; I148T and also 1078delT. There are 40 mutations that can be detected by this test, but two were removed because one of the mutations was decided to be a polymorphism and the other was too rare to test for.

Genetic screening is done with RFLP analysis. RFLP stands for Restriction Fragment Length Polymorphism. RFLP analysis is used to find an identifiable pattern of fragments (an RFLP) that indicates a genetic marker. The genetic marker is unique and is inherited in all people with a disorder or disease. The RFLP comes from a strand of DNA near a suspected gene location that has been cut with a restriction enzyme into smaller pieces. The pieces of DNA are separated using gel electrophoresis into their distinctive bands. The RFLP is a distinctive pattern of the fragments in the gel. All people with the disorder or disease have the RFLP pattern, it is written in stone or in this case, DNA. DNA bands are studied to determine if a person has a disease, is a carrier, has no prior deposition to the disease, or if they will develop the disease in the future. A detailed human map is being developed by scientists worldwide who are contributing information to the human genome project. The human genome project is an attempt to map out every gene on every chromosome of the human genome. It is going slowly, but growth in knowledge of the genome is growing exponentially every year. Along with the growth, we are accumulating knowledge about more

These tests include DNA-based methylation testing, fluorescence in situ hybridization, and genetic testing. The DNA-based methylation tests a specific region on chromosome 15 to find if there is any abnormal parent-specific imprinting. This means that the test will be able to determine if the chromosome is either inherited from the mother only or properly inherited from both parents (GHR 2014). For example, the deletion of the 5-6 Mb region of chromosome 15 would be what researchers looked for with the DNA-based methylation. However, the other tests are just as effective as the DNA-based methylation, because they are trying to get the same end result (Cassidy et al. 2012). The DNA-based methylation test would be able to show us that the 5-6 Mb region on chromosome 15 in deleted. Then from there people can look at what happens in the 5-6 Mb regions to determine that it causes several genes that help with providing instruction on making molecules to be lost. An example would be the nucleolar RNAs. This gene aids in regulating other RNA molecules, which help with producing proteins and other activities in cells (GHR 2014). Part of the segment that is lost on the paternal chromosome 15 also contains the OCA2 gene, which aids in determining the pigmentation of eyes, hair, and skin. While Prader-Willi syndrome is characterized by only having maternal chromosome 15, Angelman syndrome is characterized by only having paternal chromosome

When utilizing PCR-RFLP, a DNA fragment is first amplified by PCR, then it is digested by a certain restriction endonuclease to generate a restriction polymorphic profile for the test subject species (Shaw et al., 2002). PCR amplification should be highly conserved among a species so that it can be easily amplified. Each fragment length is considered an allele, and RFLP occurs when the length of a detected fragment varies between individuals.

Marfan’s syndrome is a rare hereditary disorder of the body’s connective tissue. The phenotypic traits include being tall, abnormally long stretched limbs and in the most severe cases the aorta can be prone to rupture and retinal detachment can occur [1]. Seventy five percent of cases for this multisystem disorder are genetic and inherited in an autosomal dominant fashion (a child can inherit it from just one parent): 25% are sporadic where neither parent has the syndrome [2]. Its prevalence is 1/5000 and of these affected individuals each has a 50% chance of passing on the mutated gene to their offspring [3]. Marfan’s syndrome is caused by mutations in the fibrillin-1 gene (FBN1) located on chromosome 15q21.1 [4]. Fibrillin is a large glycoprotein

It has an introduction, methods, results and discussion section. The introduction talked about the different ways copy number variations can be detected. In the article, it mentioned whole-genome sequencing, genotyping arrays, exome sequencing. All of them have pros and cons, such as cost and being able to detect certain sizes of genes as being a method. In the methods section, the authors showed how they: controlled the quality of CNVs, filtered the genes, assessed the copy number quality in parent-child trios, defined gene- and exon-specific copy number calls, created genic copy number intolerance scores, stratified copy number variations by genic content affected, showed their predefined gene sets, and analyzed gene set enrichment. The main conclusions could be found in the results section of the paper, and the implications of the research findings could be found in the discussion

The test uses gene sequencing technology to spot traces of DNA related to different cancers in screen blood samples. To be precise, it looks at 96 genetic markers associated with breast, ovarian, lung, colon and melanoma cancers - ones that have specific treatment regimens and are well known. Many cancer

This breakthrough in genetic testing is not only helpful for parents to have unborn babies tested

STRs have become a main practice in DNA analysis due to the easily amplifiable structure. Enhancement methods such as polymerase chain reaction or PCR. PCR products for STRs are generally similar in amount, making analysis easier for analysis and amplification. An individual gets one copy of an STR from each of its parents that may have similar repeat sizes. The amount of repeats in STR markers can be a relatively high variable among an individual, which make STRs an effective strategy for identification of an

A chromosomal genetic test technique analyzes the whole chromosomes or long lengths of DNA to verify if there are any large genetic changes, such as an extra copy of a chromosome that cause a genetic condition of concern to one’s health ( Scuffham & MacMillan, 2014). The biochemical genetic tests technique study’s the amount or activity levels of proteins; abnormalities in either may indicate changes to the DNA that result in a genetic disorder. Evidently, genetic testing can provide information about a person’s genes and chromosomes. The available types of genetic testing include: The newborn screening that is performed after birth to identify genetic disorders that can be treated early in life. In the United States (U.S), millions of expecting parents provide consent for their babies to be tested each year. Currently, almost all states test infants for phenylketonuria (PKU), a genetic disorder that causes intellectual disability and congenital hypothyroidism, a disorder of the thyroid gland if left untreated. Diagnostic type of genetic testing is done before or after birth to identify or rule out a specific genetic, chromosomal condition. In many cases, it is used to confirm a diagnosis in suspicious condition based on physical signs and symptoms (Scuffham & MacMillan, 2014).