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Non Mendelian Genetics Case Study

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1. The Non-Mendelian genetics is a pattern of inheritance in which the traits do not segregate in the accordance of Mendel’s law. In Mendelian Genetics it is an inheritance of any given trait that can be passing from parent to their offspring, to allow inherited one gene of individual the parent must have two pairing genes.

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Hemophilia (A and B) is a rare disease that experienced an abnormal bleeding within an internal or external in the human body due to lack of blood clotting factor VIII (Hemophilia A) and IX (Hemophilia B). It is genetically inherited disease or a mutation those two factors. An individual has a two pairing sex chromosome which is the X and Y, to determine whether the individual is a female (XX) or male (XY). The gene …show more content…

The causes of this disorder due to an autosomal recessive and a mutation in several genes involve the absence production of melanin. In some types of albinism, if each parent has one copy of defective gene there is a chance that each offspring will be an affected or a carrier. The signs and symptoms of Albinism are absence color (skin, hair, and eyes), lighter than a normal coloring (hair, skin and eyes), patches of skin that have an absence of pigment. The most common to diagnosed albinism by the used of genetic testing, it detects the defective gene that related in this disorder. Since the Albinism is no cure, treatment is for relieving the symptoms or preventing sun damage, they wear sunglasses with UV protection to protect their eyes from sun’s rays, protective clothing and sunscreen protection to protect skin from UV …show more content…

The sickle cell is an autosomal recessive means that if both parents has a form of a defective gene it can be pass to their offspring and there is a chance to be affected but if only one parent has a defective form of a gene the child will only a carrier. The signs and symptoms are anemia the red blood cells are not enough or dying, episodes of pain means that red blood vessels are blocked by shape-sickle cell it result to a pain in chest, abdomen, and joints or in bones and the sickle cell can damage the organ to fight other infections ,so it vulnerable to infections. The diagnosis is used blood testing, it detects the defective form of hemoglobin. The treatment is through Bone marrow or stem cell

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What are the primary pieces of evidence from the CBC that point to this diagnosis? Anemia is a condition that develops when a person’s blood lacks enough healthy RBC or hemoglobin. The effect is an insufficient amount of oxygen to the tissues. In Harold’s case, the main parts of evidence from the CBC include the low RBC, hemoglobin, and hematocrit.

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Albino Kittens Albinism is a surprisingly common birth defect in WAapnettik Inars kittens. It is a recessive gene and can only occur if both parents are carriers of the gene. Kittens born in the wild with albinism do not survive. The biggest reason these kittens do not survive in the wild is that they cannot camouflage themselves properly with an illusion. An albino Wapnettik Inar is not completely white like one might think, instead it is a pale pink with red marbling.

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Of course, the condition will most likely involve a heart problem, which is discovered at birth, along with a webbed neck, chest deformities, many birth marks, also known as café-au-lait spots, and a short stature. The features of this syndrome are not fully known, considering the fact that there are numerous characteristics and no two infected individuals have the same exact features. Like in most other disease cases, there are lists of more minor symptoms that can occur in an individual. In infants and newborns, feeding problems are present, due to a poor sucking reflex. Behavioral problems and developmental delays can occur, which causes the individual to achieve milestones slower, such as sitting and walking.

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These red blood cells become sickle-shaped and have difficulty passing through small blood vessels. When sickle-shaped cells block small blood vessels, less blood can reach that part of the body. If the tissue does not receive a normal blood flow it eventually becomes damaged. The abnormal hemoglobin HbS is inherited from the parents of the individual, who may be carriers with either sickle cell trait or parents with sickle cell disease. If an individual inherits only on sickle cell gene, then that individual carries the sickle-cell trait.

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The Story of the Sickling 2/24 Kid On February 24th, 1998, I was born in Miami, Florida at Jackson Memorial Hospital. On February 24th, 1998, I was also diagnosed with Sickle Cell Anemia. When I was old enough to remember, I realized the hospital was my second home. At the time I wasn’t aware what was wrong with me, but simply living was becoming tougher than it should be.

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In chapter seven of Genetic Turning Points by James Peterson, the topic of genetic counselors is discussed in terms of their role in the genetic testing process. In my ethical opinion, genetic counselors are a necessary component of the genetic testing process. Without them, ethical lines are more likely to be crossed as I believe more patients would undergo genetic testing without fully understanding what he/ she is giving their consent for and also receive unrequested results. Additionally, I believe that the absence of genetic counselors leads to patients being pressured into receiving tests he/she did not want or ask to take. , and receive unrequested results as well.

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Hemophilia is a blood clotting disorder, which means when a person is injured their blood will not clot like it should. Ryan received injections of Factor VIII to help his blood clot. It was discovered that the injections he got were tainted and that caused him to get AIDS. In 1985, Ryan was banned from entering school because he had AIDS.

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However, the symptoms may vary greatly among individuals. Still, there are five requirements that almost all patients with FD meet.4,5 Patients typically are of Ashkenazi Jewish heritage, do not have fungiform papillae on the tongue, cannot produce tears, have diminished patellar reflexes, and do not demonstrate an axonal flare after histamine is injected (normal patients develop a small red bump, but FD patients do not).4,5 If these symptoms are present, the disease can be diagnosed via a DNA test for known mutations on the IKBKAP gene. Familial dysautonomia is an autosomal recessive disorder, which is a result of mutations in the IKB kinase-complex-associated protein (IKBKAP) gene, located on chromosome 9(q31).1,2 Over 99% patients with FD have a homozygous point mutation (TC) at the donor splice site on intron 20.2,4

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Symptoms of sickle cell include, chronic pain, infection, swollen hands and feet and of course Anemia along with other serious symptoms. 1. However this symptom can vary from person to person and some have no symptoms at all. B. Sadly, there is no cure for this disease. 1.

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Melanoma. Vitamin D deficiency. The use of indoor tanning leads to nothing positive besides a slight tan than that lasts for a week. A bundle of medical bills is not worth a tan. Everyone is valued on this earth and should not be wasted because of self-appearance.

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Retinitis pigmentosa is a rare genetic disorder that causes trouble with seeing at night and reduced peripheral vision. It is a slow, progressive disorder of the eye’s retina. In France, a company developed a gene therapy that may cure the disease. The French company, GenSight Biologics, used a technique called optogenetics.

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His last child tested positive for the Sickle Cell Trait. The doctor was shocked because sickle cell is consider a minority disease and is often overlooked. The doctor tested him three times because he was caught up in the stereotype of the disease. This is a big issue because people are creating a problem that can be prevented by been educated about the risk factors. It starts with doing more research figuring out the cause and effect of the disease.

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Sickle cell has a lot of different complications. These make the disease itself harder. All the complications and symptoms just depends on the person and how their body chooses to react. Hand-Foot Syndrome is one complication that occurs with sickle cell. Due to the sickling of the cells blood vessels may be blocked which causes the hands and/or feet to painfully swell.

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Most people with the syndrome are not diagnosed until they are adults but sign of the syndrome show up as you grow to become an adult. If they are early dragonised they can receive help to overcome any problems that are caused by Klinefelter Syndrome KLINEFELTER SYNDROME SYMPTOMS DIAGRAMS GENETICS OF THE DISEASE While Klinefelter Syndrome is a genetic disorder it isn’t inherited by any of the male and female counter parts. This is caused by the additional X chromosome which is can described as an error in cell division called meiosis causes an reproductive cell to have abnormal number of chromosomes. The image on the right clearly shows the karyotype for Klinefelter syndrome and were the chromosome disorder is.

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Penguins and polar bears live in some of the coldest climates on earth. In order to survive they need to be able to insulate and keep themselves warm. For the last couple of weeks my class have been investigating how penguins and polar bears keep warm in the coldest temperatures. I am going to report how they do this and how polar bears keep warm and how this relates to penguins keeping warm.

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