Throughout this semester, I have gained a abundance of information on genetics that I never knew, but reading the book "Mendel 's Dwarf" did make it a little bit more difficult for me to understand genetics. After looking back at my notes I remembered early in the semester our professor discussing the condition that Dr. Benedict Lambert suffers from which is Achondroplasia(dwarfism). Achondroplasia is condition of short limbs, usually in arms and legs, the torso and head size is majority of the time normal. Simon Mawer describe Dr. Lambert body as "His body is not normal, his is not normal, his limbs are not normal. He possesses a massive forehead and blunt, puglike features. His nose is stove in at the bridge, his mouth and jaw protrude. His limbs are squat and bowed, his fingers are mere squabs. He is …show more content…
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
The ethnic group of Ashkenazi Jews, is very tightly knit. Their religion teaches them to remain among their own small group. Ashkenazi Jews rarely marry outside of their group. Ashkenazi Jews have a carrier frequency of 1 in 25. As Tay-Sachs disease is inherited as autosomal recessive traits, two carriers must breed in order to produce and offspring with Tay-Sachs. Because of the high carrier frequency in Ashkenazi Jews, they are considered to be 10 times more likely to have Tay-Sachs disease than the general population. Carrier screening is recommended pre-pregnancy in all couples in whom at least one is an Ashkenazi Jew.
Throughout the play Bennett reviles Doris’ character by showing her affection to the past, she talks to old photographs of her dead husband, Wilfred, and talks aloud to him. This indicates Doris’ apparent loneliness and how she feels “left behind” by the rest of her generation. When talking about the people she new in the past like Wilfred, she takes on there voice, this shows how she...
The characterization of nature is detrimental in shift of 20th century modernist writing to impressionist truths of Canadian landscapes. Al Purdy and Archibald Lampman were two significant Canadian writers who both possessed similar impressionist ideals on Canada’s nature. Both Purdy’s “Trees of the Arctic Circle” and Lampman’s “Heat” display not only negative judgments on Canadian landscape but demonstrate a shift from a frustrated outlook to an appreciative perception on nature.
3. In the story, what is the purpose of 'handicaps' and how do they keep people equal?
ACHONDROPLASIA is known as being undersized, or less than 50in. in height. Having short limbs, a normal sized trunk, large head with a depressed nasal bridge and small face. This is a result of a disease in the thyroid gland. It can also be caused by Down syndrome or absorption, a cartilaginous tissue during the fetal stage. Hypochondroplasia, a mild form of dwarfism. Spinal tuberculosis and the deficiency of the pituitary gland secretions. Treatment with thyroxin or thyroid extract early in childhood results in normal growth and development. Somatrophin, also known as the human growth hormone is secreted by the anterior pituitary. Respiratory problems start to occur in infants. Symptoms of problems include snoring and sleeping with neck in a hyperextended condition. The limbs have rhizometic shortening. The legs are straight in infantry but when a child. He begins walking they develop a knock-knee position. When the child continues to walk legs begin to have a bowed-leg look. Occasionally, these curvatures are fixed. As the child continues to walk the kyphosis disappears and the back assumes a lordotic posture. If a delay in child’s walking occurs, the spine should be monitored closely for signs of gibbous formation. In infancy, hypercephalus can occur. Infants head circumference should be monitored close . Monthly checks of head circumference must be monitored. Radiologic studies are indicated if head circumference raises to disproportionately, or if symptoms of hydrocephalus. Child’s pediatrician should have a copy of head circumference curves for children with achondroplasia. Radiologic procedures for dwarfism include head ultrasound, C-T scan, or MRI of the head. If intervention is necessary, a ventriculoperitoneal shunt is placed relieving the pressure. Infants should also be monitored for foramen magnum compression. It is the opening at the base of the skull in which the brain stem and cervical spinal cord exit. When you have achondroplasia the foramen magnum is compressing the brain stem and spinal cord. Symptoms of narrowing include apnea the cessation of breathing and cervical myleopathy. C-T scans and MRI scans are done to examine the size of the infectious foramen magnum. A neurosurgical procedure called a foramen magnum decompression is executed to alarge foramen and alleviate further symptoms. Adolescents are at risk of getting lumbosacral spinal stenosis. The lumber spinal cord or nerve roots become compressed producing nerosurgical symptoms. Initial symptoms including weakness, tingling, and pain of the legs. Pain usually alleviated by assuming a squatting position.
When trying to understand genetics Mendel 's laws are a very big part of it. Mendel 's two laws help us understand and analyze genetic crossings. In our experiment we used drosophila melanogaster flies, a common fruit fly. This was perfect to understand and visualize how the laws take effect. Mendel stated that during the process of genetic crossing; two alleles are formed which then separated to form gametes, which would appear in fertilization. In our experiment we accomplish a cross that determined different eye and body colors. By using the Chi-Square test, we were able to test our results. Our groups hypothesis stated the number of flies from the F2 generation would accommodate Mendelian Genetic Ratio of 9:3:3:1. Our Chi-Square test results
Ethnicity can provide individuals with wonderful traditions and celebrations of one's heritage. However, for some Ashkenazi Jews, ethnicity brings them much more than they bargained for: a rare condition causing a wide array of liver, lung, spleen, bone and bone problems. Ethnicity brings them Type I Gaucher Disease. Type II and Type III are the two other forms of this rare genetic condition, and can occur at equal frequencies in all ethnic groups. Gaucher disease was first described in 1882 by Doctor Philippe Charles Ernest Gaucher from France (2) . Type I , the most frequently seen form of the disease, can affect people of multiple ethnic backgrounds. However, its prevalence is greatest by far in the Ashkenazi Jewish population, making it the most common genetic disease within this ethnic group.
Genetic disorders can be caused by many of the 46 chromosomes in human cells. This specific disorder is linked to a mutation in the long arm of the X, or 23rd chromosome. The mutation is recessive, meaning a normal X chromosome can hide it. Females have two X chromosomes allowing them to hide the mutated recessive one, making them a carrier of the gene, while males only have one X chromosome, meaning that they are unable to hide the mutation and they become effected by the disease. Therefore if a male carries the gene, he is affected because he has no way of dominating the recessive gene, but if a female carries it, she is only a carrier and has a 50/50 chance of passing it on to her baby. This may seem like a high probability however, only one in every fifty thousand male births will have this immunodeficiency disease.
In the story Of Mice and Men there were many handicaps that Steinbeck decided to speak upon. One was the fact that Crooks was a crippled stable man, Lennie who was mentally disabled, and Candy who lost his hand in an accident and is always worried about keeping his job (Attel). All three of these characters were left behind for reasons. All three had handicaps that prevented them from getting along normally in society. All three of these characters had handicaps, b...
While Oliver Parker depicts a vivid character named Miss Gwendolyn Fairfax from the book The Importance of Being Ernest who has a perfect performance in the film, Gwendolyn provides opportunities to discuss ideas and tout the New Woman near the turn of the century. Parker successfully develops and forms a much more complex character by giving out more detailed decorations and more supportive information such as tattoo, background description, and appearance and style. The readers can have further impression by watching the entire film, at the same time, they can have basic cognitive of the character.
Achondroplasia is a genetic disorder in which there is a growth hormone deficiency, or there is a genetic mutation in either the father’s sperm or mother’s egg. Mayo Clinic, March 20, 2014. Achondroplasia was the first discovered in ancient Egyptian records. People with achondroplasia are considered people with supernatural powers. Many people call dwarfs midgets, but to them, it is very disrespectful because midget literally means little person.
Tay-Sachs is a recessive disorder, it is transmitted through the genes in the same way as eye color is passed from parent to child. Even though it is an inherited condition, most families are not aware that they carry genes for a disease until the birth of an affected child. Children with Tay-Sachs are most often born to parents with no family history of the disease. A recessive condition like Tay-Sachs results ...
In Gattaca, the plot focuses on the ethics, the risks, and the emotional impact of genetic testing in the nearby future. The film was released in the 90s; yet in the present, the film does not give the impression of science fiction. Today, genetic testing is prevalent in many aspects of the scientific community. This paper will describe genetic testing, its purpose, diagnostic techniques that use genetic testing, relating Huntington’s disease to genetic testing, and the pros and cons of genetic testing.
There are many different types of dwarfism that researchers have confirmed today, but there still are many genes for dwarfism that remain unidentified.The most common of these known causes is achondroplasia, a bone growth disorder.The Little People Online website states that most dwarfs who suffer from achondroplasia are born to “average-size” parents, and that their birth rate is somewhere between onein26,000-40,000www.lpaonline.org).The main characteristics of this form of dwarfism are normal trunk size with short appendages, irregularly large heads wi...
The novel explores gender roles through the characters of Mrs. Ramsay, Mr. Ramsay, and Lily. Each of these characters embodies different views in regards to gender roles. The readers are taken into their minds and thoughts and are allowed to see what each character views is the role of his/her gender.