Genetic diseases pg

NTRUHS QUESTIONS
  1. Mechanism of lysosomal storage diseases (YSR UHS, Nov 2023)
  2. Gene therapy (YSR UHS, Nov 2023)
  3. Microsatellite instability (YSR UHS, Nov 2023)
  4. Types of chromosomal abnormalities (NTRUHS, June  2023)
  5. Discuss disease caused by trinucleotide- repeat mutations (SVIMS, June 2023)
  6. Discuss the uses of DNA microarray (NTRUHS Dec 2022)
  7. Discuss the principle and applications of next generation sequencing (NTRUHS Dec 2022)
  8. Gene therapy (NTRUHS May 2022)
  9. DNA finger printing (NTRUHS May 2022)
  10. Describe the types of gene therapy and its role in genetic disorders (SVIMS April 2021)
  11. Next generation sequencing (SVIMS April 2021)
  12. Mucoviscidosis (SVIMS April 2021)
  13. Gene silencing (NIMS April 2021, 2018)
  14. Genomic imprinting (2018)
  15. Discuss briefly the chromosomal disorder and their laboratory diagnosis
  16. Ehler danlos syndrome
  17. Discuss the pathology of inter sex syndrome
  18. Kleinfelter’s syndrome
  19. Storage diseases
  20. Lysosomes in health & disease
  21. Nucleolar organizer regions
  22. Tay sachi’s disease
  23. Ochronosis
  24. Alkaptonuria
  25. Various methods of DNA recombination techniques and their diagnostic application in histopathology
  26. Reverse genetics
  27. Chromosomal bonding technique 
  28. Disorders of sex chromosomes
  29. Modification of PCR
  30. DNA repair genes.
  31. Classify lysomal storage disease. Describe Glycogen storage disorders in detail. Discuss pathology & pathogenesis of Gaucher’s disease 
  32. Gancher’s disease and its Molecular biology 
  33. Applications of insitu Hybridisation
  34. Biomedical applications of recombinant technology
  35. Lyon’s hypothesis and its revelance to X-linked disease in female.
  36. Inborn errors of metabolism 
  37. Molecular and biochemical basis of mendelian disorder
  38. Gene cloning merits & demerits
  39. Sex limited inheritance.
  40. Phenylketonuria
  41. Implications of genomic imprinting in human disease 
  42. Down’s syndrome
  43. Autosomal recessive disorders
  44. Discuss about cytogenetic disorders
  45. Mucoviscidodis
  46. Chromosomal quantitative abnormalities
  47. Translocations
  48. Fructosuria
  49. Gene tracking
  50. What are the types of RNA? Discuss micro RNA
  51. Fragile X syndrome 
  52. Discuss briefly the diagnosis of genetic diseases 
  53. Discuss pathology & pathogenesis Neimann picks disease 
  54. Discuss the medical applications of PCR 
  55. Discuss the role of immunohistochemistry in pathology
  56. Discuss the role of IHC in studying various disorders of human tissue
  57. Describe the mendelian pattern of genetic inheritance with examples
  58. DNA probes 
  59. X-linked diseases 
  60. Flow cytometry 
  61. Discuss in detail about ehler’s danlo’s syndrome
  62. Fragile X syndrome (RGUHS 2018)
  63. Recombinant DNA techniques (RGUHS 2018) 
  64. Gene mutation (RGUHS MAY 2007) 
  65. Compare and contrast the disorders of sexual development (RGUHS Sep 2007) 
  66. Karyotyping and the different methods involved (RGUHS MAY 2017) 
  67. Familial hypercholesterolemia (RGUHS Nov 2016) 
  68. Niemen picks disease (JIPMER MAR 2009) 
  69. Genomic imprinting and its clinical applications (JIPMER MAR 2013) 
  70. Lysoromal storage disorder (JIPMER OCT 2015) 
  71. Mode of inheritance, Pathogenesis and features of X-linked recessive gene disorders. Cite relevant examples (JIPMER OCT 2016)
  72. Fragile X-syndrome (JIPMER MAR 2012)