disorder called that leads to weakened, brittle bones. causes defective collagen disorder called causes abnormally thick mucus in the bronchial tubes and pancreatic ducts. disorder called leads to progressive degeneration of neurons in the brain. disorder called causes urine to be black.
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- Fragile-X syndrome causes the most common form of inherited intellectual disability. What is the chromosomal abnormality associated with this disorder? What is the phenotype of this disorder?Analysis of Autosomal Recessive and Dominant Traits Describe the primary gene or protein defect and the resulting phenotype for the following diseases: a. cystic fibrosis b. Marfan syndromeChoose a genetic disorder to research. Your description should include information about the genetic mutation that causes the disorder, the effects and symptoms of the mutation, how it is acquired, and how common it is. Additionally, isthere anyone famous or important who has ever had this disorder? Does the disorder have any advantages?
- A 30 - year - old woman was undergoing therapy for b-thalassemia,a recessive trait caused by absence of or reduced synthesis ofthe hemoglobin b chain, a subunit of the oxygen-carrying moleculein red blood cells. In this condition, red blood cells are rapidlydestroyed, freeing a large amount of iron, which is deposited in tissuesand organs. The blood transfusions the patient had received every twoor three weeks since the age of 7 to stave off anemia were furtheraggravating iron buildup. Her major organs were showing damage, andshe was in danger of death from cardiac disease. Her physician suggestedthat she consider undergoing a hematopoietic (bone marrow)stem cell transplant (HSCT). Since these stem cells give rise to redblood cells, such a transplant could potentially restore her health. Whilethis might seem like an easy decision, it is not. Advanced cases havea high risk (almost 30 percent) for transplantation-related death. At thispoint, the woman is faced with a difficult and…A 30 - year - old woman was undergoing therapy for b-thalassemia,a recessive trait caused by absence of or reduced synthesis ofthe hemoglobin b chain, a subunit of the oxygen-carrying moleculein red blood cells. In this condition, red blood cells are rapidlydestroyed, freeing a large amount of iron, which is deposited in tissuesand organs. The blood transfusions the patient had received every twoor three weeks since the age of 7 to stave off anemia were furtheraggravating iron buildup. Her major organs were showing damage, andshe was in danger of death from cardiac disease. Her physician suggestedthat she consider undergoing a hematopoietic (bone marrow)stem cell transplant (HSCT). Since these stem cells give rise to redblood cells, such a transplant could potentially restore her health. Whilethis might seem like an easy decision, it is not. Advanced cases havea high risk (almost 30 percent) for transplantation-related death. At thispoint, the woman is faced with a difficult and…Olivia S. was born with a rare recessive disorder called tyrosinemia.The next day, Olivia M. was born in a neighboringstate with the same disorder. Tyrosinemia is causedby the lack of an enzyme in the degradation pathway of the aminoacid tyrosine. Accumulation of metabolic intermediates causesprogressive liver dysfunction and kidney problems. One-year-oldOlivia S. is healthy and has no symptoms of the disorder. At thesame age, Olivia M. developed total liver failure. Olivia S. was bornin a state where newborns are tested for tyrosinemia, but Olivia M.was born in a state where newborns are not tested for this disorder.A week after diagnosis, Olivia S. was placed on a low-tyrosinediet and prescribed a drug to block the accumulation of metabolicintermediates. Olivia M. was not diagnosed until she was in liverfailure; she then was placed on a low-tyrosine diet, was prescribedmedication, and underwent a liver transplant. She faces a lifetimeof antirejection drug therapy and may require a…
- Comparision of mutation and genetic disorders?Pancreatic cancer is clearly inherited as an autosomal dominant trait in the family illustrated in Figure 23.1. Yet most cases of pancreatic cancer are sporadic, appearing as isolated cases in families with no obvious inheritance. How can a trait be strongly inherited in one family and not inherited in another?Pseudohypertrophic muscular dystrophy is an inheriteddisorder that causes gradual deterioration of the muscles. It isseen almost exclusively in boys born to apparently unaffectedparents and usually results in death in the early teens. Isthis disorder caused by a dominant or a recessive allele?Is its inheritance sex-linked or autosomal? How do youknow? Explain why this disorder is almost never seen in girls.
- Glioblastoma multiforme (GBM) is the most commonand aggressive form of brain cancer in humans.Without any treatment, the mean survival rate is aboutthree months. Even with standard treatments such assurgical resection, radiation, and chemotherapy, themean survival rate is between seven and 14 months.GBM tumors differ in their spectrum of geneticchanges, and these changes may influence the effectof particular treatments. Answer the following questions about the relevance of particular mutations toparticular treatments and outcomes.a. Biopsies of about 20% of GBMs show the expression of a certain mutational variant of the EGFR(epidermal growth factor receptor) protein calledEGFRvIII. The same cancerous cells of theseGBMs also show the expression of normal, wildtype EGFR. Is the gene encoding EGFR a tumorsuppressor gene or a proto-oncogene?b. It is very difficult to induce cells expressingEGFRvIII to undergo apoptosis. If you werea radiologist treating a patient with a GBMthat expresses…In Ingested poisoning and carbon monoxide poisoning, are there any measures that could prevent this form occuring? Is this disease/disorder or medical emergency precentable? Or is there a way to lessen your chances of getting this disease/disorder? (if it's a genetic disease the answer is likely no) How?Sickle cell disease— what is the background of this disorder: include the name of the disorder, any alternate names used, provide a description of the disorder, and the typical age of onset. What is the Type of genetic disorder: explain if and how this disorder is inherited. Explain the genetic causes of the disorder. Is it inherited? Is the disorder a dominant or recessive trait? Which chromosome is affected in this disorder? Is a gene mutated? If so, name the gene that is affected? How is gene expression impacted (is it a particular type of mutation, a case of a misshapen protein, etc.?)