Explain why the increased prevalence of sickle-cell disease among African Americans has more to do with the environmental factors than the skin color or other phenotypes used to define races. During a short break of solitude from studying, I explored and came across that the environment in which most African Americans reside in has a high occurrence of malaria virus. The malaria virus disease is contagious and when it contaminates someone with sickle cell traits, it cannot survive on the external
other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems)…” Over 400 genetic syndromes are associated with congenital hearing loss. These include Treacher Collins, an autosomal dominant disorder and Down syndrome, an x-linked hearing loss. Although congenital hearing loss can be difficult to live with, hearing aids, surgery, and therapy are all available as forms of treatment. Hearing loss must be treated as soon as possible to
(Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot be cured, treatments can be given to lessen the effects. Like other diseases, Waardenburg Syndrome has certain symptoms, inheritance patterns
successful lives. Mutations in at least 60 different genes can cause RP, in turn causing different forms of the disorder (“Retinitis pigmentosa”, 2015). The mutation can also be “influenced by the environment, or interactions with other genes (Openshaw et al., 2008)." There are three ways RP can be inherited, autosomal dominant, autosomal recessive, and X-linked inheritance.
Walther and Johanna’s children because they are both homozygous for the recessive trait, meaning no dominant genes can be passed down. There is a 75% chance of Gerard and Narelle having children with brown hair because both parents are heterozygous for the dominant trait. The Punnett square shows that there is only a 25% chance of a child being born homozygous recessive because of this. Colour blindness is a genetic disorder that is evident in 8% of males and 0.64% of females in the world. The large
Muscular Dystrophy is type of genetic disorder consisting of 30 characterized genetic diseases. Essentially, Muscular Dystrophy reduces the strength of the muscles in your body until eventually they degenerate and lose all function. Each type of this rare disease varies in its affects, symptoms, and severities. However they are all commonly caused by dissimilar genes accompanied by imperfections. Muscular Dystrophy was first historically recorded in 1830, by Sir Charles Bell, when he composed a paper
Retinitis pigmentosa is a genetic disorder that causes blindness in the people that are affected by it. I chose retinitis pigmentosa because my grandmother has this genetic disorder. The disorder is very costly on those who have it. The disorder has robbed my grandmother of the life she wanted. She is no longer able to do the things she once was. She is legally blind, cannot drive, and has trouble getting around crowded areas. Retinitis pigmentosa was discovered by Doctor Donders in 1857. Retinitis
rubella, cytomegalovirus, or herpes. Other factors include: premature birth, low birth weight, birth injuries, anoxia, and toxins (ex: drugs and alcohol consumed by the mother during pregnancy). There are several inheritance patterns for deafness. Autosomal dominant deafness accounts for app... ... middle of paper ... ... hearing impairment in comparison to other disabilities, and the pragmatic prioritization of their child’s developmental needs. The second theme related to parental understanding
The second week of my elective was more or less the same as the first week the only difference was the verity of the cases that ranged from as simple as bacteremia, meningitis, urinary tract infection to as complex as genetic and neurological disorders. The last two weeks of the elective course were in the outpatient clinics where I had a completely different experience. In the outpatient clinic I got the chance to have hands-on experience in taking histories from patients and their caregivers and
Phenylketonuria is the inability to metabolize the phenylalanine, which damages the brain and nerves. Phenylketonuria is an inherited disorder that increases the levels of phenylalanine in the blood. Basically, phenylalanine is the building block of amino acids and found in all proteins. If Phenylketonuria isn’t treated, it can create a build up of phenylalanine that can be harmful to the body. If left untreated, it can cause intellectual disability and slow growth and brain damage. The symptoms
EhlersDanlos Syndrome Ehlers-Danlos sydrome (EDS) is a rare inherited group of connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen is a tough fibrous protein that plays an essential role in binding, holding together, strengthening, and providing elasticity to bodily cells and tissues. There are six major types of EDS that I will discuss, however I will only go into detailed discussion on two of the six types of EDS. The two major
Genetic disorders and birth defects have been associated with the common marriage practice of consanguinity. Consanguinity occurs in communities around the world. It is practiced for cultural, religious, and social reasons. These unions are banned in many countries due to the associated risks of genetic diseases and birth defects. There is a significant increase in the probability of a child being born with a genetic disorder of a consanguineous marriage as opposed to offspring of a non-consanguineous
Polycystic Kidney Disease, also known as PKD, is a common inherited gene disorder that causes the growth of cysts in the tissues of both the kidneys. The kidneys are a major organ in the excretory system; they remove wastes from the blood and form of urine. They filter the blood, keeping it clean of all wastes and have a number of other functions as well. Due to the growth of cysts on the kidneys it makes it hard to carry out these functions and the will eventually cause the kidneys to fail. This
Interesting Facts- v The probability of having polyposis varies from 1 out of 7,000 to 1 out of 22,000 v Polyposis is inherited through reproduction in an autosomal dominant pattern in the chromosomes of the offspring. Works Cited Wehbi, Mohammad, and John M. Carethers. “Familial Adenomatous Polyposis.” : Background, Pathophysiology, Epidemiology. N.p., 6 Mar. 2015. Web. 30 Mar. 2016. Stavro, Steven Atanas. “Result Filters.” National Center for Biotechnology Information. U.S
this treatment. How would you expect the frequencies of the Huntington’s allele and the disease itself to change over a long period following the introduction of this treatment. Huntington’s disease is a progressive neurological disorder that is caused by an autosomal dominant mutation in the HTT gene. There will be no change in the allele frequencies because this treatment only has an effect on the phenotype, not the genotype; it does not
The term, “Ichthyosis”, is a skin disorder generally causing dry, scaly skin. It is affecting around 1 in 250 people and is typically an autosomal dominant inherited disease; although, a rare non-heritable version called “acquired ichthyosis” exists to this day in modern age. The condition is not life-threatening, however, the impact on the patient, if it is a mild case, is commonly regulated to mild itching and the social impression of having skin with an unusual appearance will affect those surrounding
PPL 10. Inborn errors of metabolism. Amino acid can be classified into essential and non-essential. Non-essential can be synthesized from metabolic precursors, whereas essential cannot and must be taken from the diet. Essential are the ones that have more steps in the production process, so they required more ATP. Essential amino acid includes phenylalanine, valine, threonine, tryptophan, methionine, leucine, isoleucine, lysine, and histidine. And non-essential amino acids are arginine, alanine,
After reading your paper I had to look up Congenital Insensitivity to Pain disorder and learn more about it. For someone to have this disorder, they have to have mutiated gene and is a genitic disorder. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. 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
Hypophosphatasia is a rare genetic bone disorder characterized by osteoblast hyperactivity and bone remodeling with loss of, or incomplete, mineral deposition. It is comparable to osteomalacia and rickets, but maintains a unique set of characteristic identifiers (Mornet 2008; Brickley and Ives 2008). Also called, Rathbun’s Syndrome, hypophosphatasia can be autosomal dominant or autosomal recessive depending on the individual. Severe forms are usually transmitted as autosomal recessive with a recurrence risk of
“The carrier rate for Tay-Sachs in the general population is 1/600” (OMIM). Sandhoff Disease is a rare genetic disorder, and it is a severe form of Tay-Sachs that progressively destroys cells in the brain and spinal cord. Since its discovery and analysis of inheritance, there have been advancements of its diagnosis, treatment, research, and its support resources for affected families. Those affected individuals lose motor skills and function of other body parts. As the disease progresses they experience