Usher Syndrome And Genetic Differences

The P1 cross was between four wmf females and nine wild-type males. The F1 progeny consisted of 12 wild-type females, and four triple-mutant males. The P2 cross resulted in 13 females, and 3 males, all with the wild-type phenotype (Table 1). The two parental crosses identify that the mutations are X-link recessive. The triple-mutant females of the P1 cross produce mutant male offspring, but wild-type females. The F1 females would be heterozygous for the mutations, but don’t express the mutations because they still have a wild-type X chromosome. However, the F1 males only have one X chromosome that comes from a mutant mother. The offspring for P1 were crossed again to make and F1 cross. The F1 cross would be X+/Y and X+/X. The F1 cross resulted in 100 F2 progenies over the course of 7 days.

Since its sex-linked, then you know the father has normal vision, then he has a dominant allele on his X chromosome. Since the color blind child in question is a son, then he inherited a Y from the father. So, the colorblindness

The reading shows disease and inheritance in an entirely new light. It introduces the idea that genetically inherited diseases may have been selected for, which means that they must provide certain evolutionary advantages. It reorients the reader’s perspective about a disease like hemochromatosis, which has the potential to be incredibly harmful and even deadly, establishing that it may have once provided protection from the bubonic plague, making it an advantageous trait. This brings other genetic diseases into question, examining why diseases that appear to be harmful have not been eliminated from the gene pool. The idea that a disease that is harmful and dangerous in modern times could have once been a beneficial adaptation is very interesting.

It is an inherited genetic disease. It is passed down in families 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 any symptoms. Around 1 person in every 150 people are thought to be carriers. There are two types of Krabbe disease the infantile and the late on-set. The infantile form, which affects 85 to 90% of people with

This story is really creepy mysterious but kind of fun to read In the story Roderick, usher

In contemporary America, the media is known for routinely showing images of the ‘normal’ body of the so-called ‘regular’ people, and those interpretations are disseminated all over society. Not only does the popular media impose those idea repeatedly, they consistently display women and men as products to be sold. There are some who shamed those for even displaying such bodies to begin with like the disabled woman, Jes Sachse, a twenty-five year old Canadian who garnered attention by mirroring American Apparel ads of beautiful, but racy images of other women. The difference between her and those women is her genetic disorder called Freeman-Sheldon syndrome, which is a condition that deforms areas such as the face, hands, and feet. She ultimately gained popularity,

Usher syndrome is a genetic disorder that causes its victims to get retnis pigmentosa (RP), or a disease that affects someone’s retinas resulting in tunnel vision, and hearing loss. The most common gene that becomes mutated is gene USH2A, this is a protein producing gene. It is a mutated recessive gene, meaning that in order to inherit Usher syndrome both parents have to be carriers of it. Once the child gets Usher syndrome, they will experience loss of eyesight and hearing.

Colour blindness can is often carries the mutated gene on the X chromosomes that it passed 50% of this over to the child, the mother may not have had colour blindness but it would most likely be carried on one of the X chromosomes, If the mother is the carrier and the father doesn’t have colour blindness there is a one in two chance that the son may have the disease while for the daughter there is a one in two chance that she would be the carrier of the disease and there being no chance in her getting it. (National Eye Institution, Accessed 22.08.2015). If both of the Parents are carriers that means that there is a one in four chance that the child would most likely have the disease, one in two that the child is a carrier of the disease or a one in four chance that the child isn’t a carrier of the disease and also doesn’t have the disease although it is most likely that one of the children would end up getting colour blindness if one of the parents happen to have it (National Eye Institution, Accessed

Genetic disorders come in various forms. Some can be caused by mutations of the genes or chromosomes while others can be caused by a process called nondisjunction. Nondisjunction occurs when chromosomes during meiosis do not separate correctly and the daughter cells receive too much or too little genetic information. Klinefelter's is caused by nondisjunction which results in an extra X chromosome being present in a male.

“Achromatopsia affects roughly 1 in 33,000 Americans.” (2) Achromatopsia is a condition in which a person loses partial or all of their ability to see color and can also be referred to as achromatism, rod monochromatism, or total color blindness. It is the result of a change in one of the following genes: CNGA3, CNGB3, GNAT2, PDE6C, or PDE6H. Achromatopsia is a disorder that affects the retina, which is the part of the eye that is sensitive to light and forms visual images. Inside the retina is two different types of light receptor cells, called rods and cones. These cells use a process called phototransduction to send visual signals from the eye to the brain. Mutations in any of the genes above disrupt the phototransduction process, affecting

The imagery that Poe uses to describe Usher emphasizes the fact that Isolation tore Usher apart. The narrator states, “Surely, man had never before so terribly altered, in so brief a period, as had Roderick Usher!” (Poe 8). The period of time that Usher had been in solitude was enough to distort his appearance completely. Even his boyhood friend found him completely unrecognizable. This change in appearance foreshadows another change outside the physical realm. His sanity begins to fade when: “—here he sprang furiously to his feet, and shrieked out his syllables, as if in the effort he were giving up his soul—” (Poe 24). It is already known that his appearance is unnatural and distorted; now it is certain that he has lost his mind. He is acting inhumane and senseless when he jumps around in fear. These actions prove that he is unlike a normal human being that is in touch with society and common social standards. Isolation causes Usher to act this way, and it is the same result for anyone in confinement. Therefore, Poe’s use of imagery in sound and description prove that Usher was out of touch with the real world, and slowly going insane with his lack of

It was found in recents studies that KS is most commonly inherited maternally. Due to the regular levels of aneuploid sperm men produce, all men in the general public have a risk of producing an aneuploid child, therefore producing a child with KS. Knowing this, a man does not necessarily have to have KS to still produce a child with Klinefelter syndrome however it is more common for a child to inherit Klinefelter syndrome if his father also has KS.

Usher syndrome is an inherited syndrome and is presented in someone with difficulties with both hearing and vision. The symptoms are hearing impairment and retinitis pigmentosa. Retinitis pigmentosa causes for the vision to deteriorate over time. There are also three types of Usher syndrome: Type 1- the individuals are profoundly deaf at birth and they will have difficulties with their balance. They vision problems develop around the age of ten. Type 2- they are born with moderate to severe hearing loss and has normal balance. They mainly perform well in school and can benefit from hearing aids. Their visual problems happen at a slower rate than someone with type 1. They can get blind spots, but they appear when they enter adolescence and then

Red-green colorblindness is usually inherited in an X-linked recessive way and it affects an approximated 6 percent of men in the world. This means that, the disorder is usually passed to the affected persons through the X chromosomes thus making the condition to be experienced more by men than

Imagining that we were in a future age, our class was told to make a decision about what to do with some genetically modified actors who were made to become monsters. They were created for the purpose of acting in a horror film. Choosing one out of five different options about how we would deal with these genetic freaks after filming had finished proved tough as our group had to work together to come up with a consensus on what to do.