A 50-year-old man undergoes genetic testing for hemochromatosis, an autosomal recessive disease characterized by abnormally elevated serum iron levels leading to organ toxicity. He is positive for a genetic mutation and is diagnosed with the disease. However, he never develops signs of elevated serum iron levels or organ toxicity. Which of the following terms best describes this patient's disease? A Low penetrance B Low expressivity
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- An individual carries a disease-causing point mutation. Briefly describe four methods that can be used to identify this mutation. Mr. Yeboah, diagnosed with a malignant tumour of the liver had it removed and was given a course of chemotherapy. Initially, tumour marker (AFP) activity activity was 7500KU/L (which is very high) but after treatment, this gradually declined to only 5KU/L. A routine follow up test was perfomedafter 3 months and the results was 15KU/L for AFP. The doctor suspected a relapse of the tumour and so referred Mr. Yeboahto an oncologist at a cancer centre who also did a re-check. AFP was recorded to be 5KU/L. Enquiries revealed that the hospital and the cancer centre use different instruments for the measurement of AFP. Both results are normal even though the values are significantly different because different methods were used.a) How can both labs confirm that the results are not clinically significant? b) How can both labs avoid this happening again?Which of the following are considered to be factors involved in the pathological features of Down Syndrome? Development of beta amyloid plaques Abnormal Superoxide Dismutase activity Hyperphosphorylated Tau proteins Misfolded alpha-synuclein proteins OA & B are correct
- Some people have a genetic predisposition for developing priondiseases. Examples are described in Table 25.6. In the case ofGerstmann-Straüssler-Scheinker disease, the age of onset istypically 30–50 years, and the duration of the disease (whichleads to death) is about 5 years. Suggest a possible explanationwhy someone can live for a relatively long time withoutsymptoms and then succumb to the disease in a relativelyshort time.A patient has a blood bank history of being type A positive. The patient has recently been diagnosed with carcinoma of the colon and now the reagent anti-B is showing a 1+ reaction with the patient's cells. Other typing results are as expected. Please explain.Skin cancer carries a lifetime risk nearly equal to that of allother cancers combined. Following is a graph [modified fromK. H. Kraemer (1997). Proc. Natl. Acad. Sci. (USA) 94:11–14]depicting the age of onset of skin cancers in patients with orwithout XP, where the cumulative percentage of skin cancer is plotted against age. The non-XP curve is based on 29,757 cancerssurveyed by the National Cancer Institute, and the curverepresenting those with XP is based on 63 skin cancers from theXeroderma Pigmentosum Registry.
- For the following diseases, describe the best technique for diagnosing them. Please make sure you include how you would tell someone with the disease from someone without the disease. B. Factor V Leiden thrombophilia is caused by a point mutation at position 1691 in exon 10 of the Factor V clotting factor gene that changes an arginine into a glutamine. This change removes one of the cleavage sites for activated protein C and leads to an increased tendency to clot.Describe three types of genetic changes that commonly convert aproto-oncogene to an oncogene. Explain how the genetic changesare expected to alter the activity of the gene product.Which of the given disorder can be seen in an individual when the mutation includes substitution of a purine by pyrimidine? 1. Chronic myelogenous leukemia 2. Sickle cell anaemia 3. a thalassemia 4. B thalassemia
- A 6-year-old girl with chronic anemia requiring repeated blood transfusions is undergoing genetic testing. The patient's mother and older sibling have a history of mild anemia. Her peripheral blood smear shows hypochromic, microcytic red blood cells, and sickle cells. Doctor has expressed opinion to use electrophoresis for diagnosis. Please explain how may it work for this disease?Describe and explain the serum protein profile of patients with suspected myeloma, as seen using non-denaturing polyacrylamide gel electrophoresis.Can you postulate a reason or reasons why children with Down syndrome are 20 times more likely to develop leukemia than children in the general population?