In a situation like these, where one of the family members appear to have early symptoms of Huntington’s Disease as Motor Symptoms where, reflexes, muscle strength coordination, balance, sense of touch (sensory) vision and eye movement and hearing are affected Freddie will have a brain Scan at Neurological exam with specialized Neurologist. After that, genetic specialist counselor will get small blood samples from each member of family to see whether who are at risk of caring Huntington’s allele. At this point, the samples move to laboratory where it will be checking CAG DNA segment within Huntington gene.
DNA is isolated from the blood sample and amplified through the polymerase chain reaction (PCR), a technique for rapidly producing,
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The DNA segments become separated throughout the gel relatively. The separated DNA fragments the, will be counted indicating the number of CAG repeats in the Huntington’s gene. From 6 to 35 repeats are considered to be normal, that means that the person being tested does not have the Huntington allele and so the disease. From 35 repeats and above the person has the Huntington allele and will be showing eventually Huntington’s symptoms of the disease.
At this case, the family has to be informed of the following results as the test came positive to Freddie, Agnes and Edward. These members of the family carry the Huntington’s allele and will be affected by
. It is essential to decide whether they are planning of giving birth to Edward and inform about the lifestyle changes in their life’s. There are trials of treating and controlling HD,
Question 2 : Characterising Yeast Mutants.
Wild-type haploid or diploid yeast strains ferment sugar to form ethanol, but the yeast are somewhat sensitive to ethanol and this sensitivity limits production of ethanol to ~6% weight by volume (w/v). The Chapelcross brewery mutated their haploid production strains of yeast and found three mutant strains that are tolerant to ethanol (up to ~15%). They plan on exploiting these strains to boost whiskey production and to expand into the biofuel industry to help create a strong and independent Scotland. The ethanol-tolerant
The purpose of this paper is to discuss the hereditary genetic disease Tay-Sach’s, discovered during a pregnancy. The discussion will focus on developing an interdisciplinary team and care plan for the expectant parents based on their wishes. This paper will also cover any ethical and/or legal dilemmas that may arise as well as identify counseling needs of those involved. In addition, there will be a personal reflection about high risk pregnancy, abortion, and the decision made by the expectant parents.
For millions of years, repetitive DNA sequences such as the “Alu sequence” have been randomly inserted in the human genome. In this experiment, I will study whether or not the repetitive element such as the “Alu sequence” is present in the PV92 region of chromosome 16 of my DNA. I will then gather the data from my Biology Lab Class and compare it with those of the United States. To perform this experiment, the method of Polymerase Chain Reaction (PCR) will be used to amplify the DNA. The purpose of using PCR is to create enough mass in order for it to run on the agarose gel electrophoresis. Performing this
(PCR), which isolates small fragments of DNA that have a high degree of variability from
Every cell within the body contains this entire set of chromosomes, which have bases arranged to form a code (Appai-Kubi). The four bases, cytosine, adenine, guanine, and thymine, interact to form the fundamental structure of DNA (Appai-Kubi). Huntington’s Disease is found on the fourth chromosome, with a sequence known as the “CAG repeat,” (Appai-Kubi). In someone who is not afflicted, the number of CAG repeats ranges from 10 to 28 (Sheth). Typically, more than 35 repetitions of CAG is associated with Huntington’s Disease, however, there are cases with people having up to 39 repeats not having the disease (Appai-Kubi). As the gene is passed on through families, the number of repeats generally increases, and with an increased number of CAG repeats, the earlier the symptoms develop (Sheth). This characteristic of the disease allows it to be tested for, by testing the frequency of CAG on chromosome 4 (Appai-Kubi.) During pregnancy, a woman can test for Huntington’s Disease in two ways; either amniocentesis, taking fluid from around the fetus, or by CVS, taking a sample of fetal cells from the placenta (Genetic Learning Center). A genetic test after birth can confirm the diagnosis after a series of neurological and psychological tests (Genetic Learning Center). Huntington’s Disease is inherited through an autosomal dominant pattern; meaning that whoever inherits the faulty gene will develop the disease throughout their lifetime (Genetic Science Learning
The disease that I have chosen is Huntington’s disease. Australian Huntingtin’s Disease Association (NSW) says that five in one hundred thousand people have Huntington’s disease. Huntington’s disease is rare in people who descended from Europe, but according to the U.S national library of medicine it is less common in people of “Japanese, Chinese and African decent” to name a few (2017). The symptoms may include: subtle changes in personality and physical skill. The most recognisable symptom is random sporadic movements throughout the body. This is called chorea; this can reduce coordination and cause other minor motor abnormities. This would lead to difficulty chewing, swallowing, speaking, cause unusual facial expressions
These strands are separated by length using electrophoresis and detected automatically by computers to be analyzed (Lyons, 2004). Another method of genetic testing is extracting one cell from an 8-cell embryo and using preimplantation genetic diagnosis (PDG) to determine the presence of disorder-causing genes (Holt, 2012).
The sample can be collected with a tape, swab or even scraping and cutting objects (Williamson 2012). Then, a Polymerase Chain Reaction (PCR) is done to increase the number of genes (Houck & Houck 2008). Next, the sample is mixed with fluorescent compounds, which attach themselves to 13 specific locations in the DNA, finally giving a specific genetic profile of the person (Houck & Houck
Huntington's disease is an autosomal dominant disorder, which is found on the # 4 chromosome. George Huntington discovered it in 1872. It mainly has an effect on the nervous system. There are around 210,000 bases between D4S180 and D4S127. The disease itself is found in 2% of people in their childhood, and in 5% of the people they were older then 60. (Miller p 16) In the majority of the affected people the disease is detected between the ages of 35-45. In males the disease begins around the time of their childhood. However, in females it begins later in life. This severe symptom has a tendency for the condition to worsen as it is passed on from generation to generation. Huntington’s disease is paternally
Other processes to locate defective genes in the human genome are the Polymerase Chain Reaction (PCR) developed by Kary Mullis and Restriction Fragment Length Polymorphisms (RFLPS), and a technique known as Southern Blotting. The DNA sample can be in creased in amount in a matter of a few hours by using the PCR technique. The DNA is then cut with a restriction enzyme, and the DNA breaks up into restricted fragments. A radioactive probe is added to the fragments that only bonds to certain codons in the DNA. The fragments are subjected to gel electrophoresis. The fragments move through the gel at different rates due to their different lengths. After the electrophoresis is done the DNA on the gel is denatured by heating and the single strands are t ransferred to membrane in a process known as Souther Blotting. The paper is then exposed to photographic film, and the radio active probe exposes itself onto the film which is then processed and studied to find any specific fragment or gene which is the cause of a condition or a disease.
An example of a dominant genetic disorder is Huntington’s disease or HD. Huntington’s disease affects the brain and causes the nerve cells in the brain to breakdown. Once the nerve cells are affected, a person’s physical and mental state will start to deteriorate. Huntington’s disease is incurable and affects people from 30 to 50 years old. Once a person has had HD for more than 10 years, the
Uncertainty, the cause of stress and worry for people of all ages, is incontrovertibly a dreadful and uncomfortable feeling. Fear of the unknown affects everyone, whether it results from something as inconsequential as a quiz grade or the possibility that an fatal disease exists within your DNA. However, the anxiety caused by uncertainty is infinitesimal compared to the excruciating pain that the certainty of a humiliating and agonizing death can bring, especially to those who have not yet had a chance to live. Huntington’s is a disease that leads inevitably to this death, and there are many people in the world who believe that they may have it. A genetic test is available to confirm the existence of the disease within an individual’s genome,
Parents take action on results while the infant patient give off blood samples of experienced symptoms. Unfortunately, parents blame themselves for their offspring disadvantage, for instance, a five day old was diagnosed with a metabolic disorder and the mother thought the cause was from protein in her breast milk. That is to say, although the metabolic disorder wasn’t specified screenings bring much worry and uncertainty. The mother didn’t know where the defect stemmed from and much of the condition was very vague. Fales positive indication can lead to either a firm positive or firm negative. Patients in waiting must take preventative measures such as making the child miss out on sleep, or putting a stop to breast feeding. Additionally warning signs and symptoms are given to families and patients. Parents find these cases very shocking because birth is suppose to be a joyous occasion. Doctors give so little information on certain conditions from the lack of conclusions even when steps are taken that patients feel the need to take action on their own. For example a 3MCC patient symptoms was so moderate the practioner put a stop to dietary measures but the parent felt the need to continue testing’s and continued to take precautionary measures. “Families are sometimes left with no option but to know what can be done to ‘help’. Geneticists and families as a whole manufacture the social and biological
Huntington’s disease is a hereditary disorder that affects a person’s nervous system and kills brain cells. It is caused by a defective gene on chromosome four, which is one of the chromosomes that holds our genetic code. This disease has been known to cause problems with the body’s abilities to produce energy from nutrients taken in from the body. Patients that have more advanced stages of Huntington’s Disease commonly experience increased weight loss.
Polymerase Chain Reaction (PCR) is a laboratory technique commonly used to make many copies of a region of DNA. PCR has many research and practical applications and It is routinely
Huntington’s disease is a genetic disorder causing the breakdown and death of brain cells causing death overtime. The disease itself has a massive negative impact on an individual’s physical and mental abilities. It is known as a quintessential family disease indicating that there is a 50% chance of carrying the faulty gene of a child with a parent having the disease. Basically the mutation of the HTT (huntingtin) gene causes the genetic disorder importantly involving the DNA segment called CAG. Ordinarily the CAG segment is repeated 10 to 35 times in the gene whereas the repetition for individuals suffering under Huntington’s disease lies at 36 to more than 120 times.