Dominant Pathogenic Disease Research Paper

Central Idea/Thesis: The most common type of chromosomal condition is Down syndrome and there are a few different types of this condition, along with, several different traits that are displayed with this condition.

b. How is it caused on a genetic level? Be specific about the chromosome #, genetic mutation, dominant or recessive, and chance of inheriting the disorder.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

The CAG combination codes for a protein called huntingtin. Why the increase number of CAG causes HD is still unknown. It is thought that too much of the HD protein makes them obtain some new, abnormal property. This is true in two

This happens when an affected parent has one recessive gene and one dominant gene whereas the other has two recessive genes, which allows two children to get two recessive genes meaning they will not be affected. Whereas the other two have one dominant gene meaning they will be affected by the disease.

mutated so significantly that the immune system was not prepared to fight it. (Peters 4).

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

A permanent change in a gene that can be passed on to children. The rare, early-onset familial

Within a year of the examination, two of the three children died. A few years later, one of the children’s parents brought a newly born sibling with the same symptoms to Tay’s clinic; leading Tay to believe whatever the disorder was, quite possibly was hereditary (Cowan 133).

discoveries is information regarding chromosomal and genetic disorders. Both chromosomal and genetic ailments can have harmful effects on the body. Genetic diseases such as Bloom's Syndrome occur as a result of gene alterations. These gene mutations cause the chromosomes to become unstable, leading to chromosomal breaks, separations and structural repositioning (Freivogel 170). Chromosomal diseases like Charcot-Marie Tooth Disease are also caused by mutations, which are nearly irreversible (Krajewski 232).

This lack of protein causes deficiencies in the relaying of nerve impulses which then leads to an individual displaying the physical and developmental symptoms specific to this syndrome. Most males and about half of females with a full gene mutation have characteristics such as a narrow face, large ears, a prominent jaw and forehead and unusually flexible fingers, and even flat feet and low muscle tone due to associated problems with connective tissues (National Library of Medicine, 2014). Males tend to have a mild to moderate intellectual disability, while only one-third of affected females are intellectually disabled (National Library of Medicine). Individuals also suffer from behavioral problems that include things such attention-deficit/hyperactivity disorders, obsessive-compulsive fidgeting or impulsive actions, unstable and disproportionate emotional displays, aggressive and self-injurious behavior related to difficult temperament, and features of autism spectrum disorders like hand-flapping and poor eye contact (Hersh & Saul,

A genetic disorder is a mutation in an organisms DNA. It is caused by a change in the sequencing of the nucleotides that make up a specific gene. The genetic disorder can be inherited by offspring, but it may or may not show in the offspring depending on whether the genetic disorder is a dominate or recessive allele. There are many genetic disorders that humans develop and inherit. Some disorders cause improvements within the human species while others cause severe retardation of the human species. In this paper, the genetic disorder Angelman Syndrome will be discussed.

Griscelli syndrome is an extremely rare autosomal recessive disease characterized by pigmentary abnormalities in the skin and hair. The first case of Griscelli syndrome was described by Claude Griscelli, a professor of pediatric medicine, in a hospital in Paris, France in 1978. Griscelli syndrome has an unknown frequency, however, it is estimated to occur in less than one per million. Griscelli syndrome usually presents in early childhood, between the ages of four months and seven years, and will almost certainly result in death during early childhood, if left untreated (Cheng, 2015). The majority of Griscelli syndrome cases have been found to occur, for unspecified reasons, in the Turkish and Mediterranean populations and as of September,

It occurs due to a lethal autosomal dominant gene of a genetic mosaicism. Their studies showed that RASopathy mutations were activated in the HRAS or KRAS genes which in return activated the RAF-MEK-ERK signaling pathways. These pathways control cell proliferation, survival and differentiation (Levinsohn, Tian and Boyden 2013). This increased cellular proliferation which is why linear nevus sebaceous syndrome is linked most commonly to the HRAS and KRAS genes. The studies of Levinsohn, Tian and Boyden (2013) showed that the mutations of these genes begins during the development of the fetus which is why only 0.3% of infants are born with the lesions. To determine the exact cause of LNSS Wang, Qian and Wu (2015) used an Ion Torrent Personal Genome Machine to target next-generation sequencing. This is designed to translate chemically encoded information such as the bases of DNA and construct a library based on the information received. A long range PCR of the HRAS and KRAS genes was also used and the results showed a missense mutation in mainly the KRAS gene, more specifically in exon 1 which showed an amino acid substitution. On the other hand, Happle (2013) and Groesser, Herschberger and Ruetten (2011) used Sanger sequencing and a snapshot multiplex assay of RAS and found mutations of HRAS and KRAS in 97% of the sebaceous nevi. Their studies also showed that 95% of the lesions were produced from mutations involving the HRAS gene and only 5% were produced from the KRAS gene. A deep tumor analysis of these mutations proposed that the HRAS was exclusively found in the lesioned skin while the KRAS gene was found only in the lesional tissue. Another study done by Levinsohn, Tian and Boyden (2013) included five separate cases of LNSS and an Exome sequence was performed of their paired DNA. Their conclusions were just like those

Predominantly effects men or boys typically distinguished as dwarfism, curved or hunched spine, this form of genetic disorder doesn’t usually become evident until around the ages of 5 to 10.