Write a paper on a genetic disorder of your choice

Write a paper on a genetic disorder of your choice (There will be a sign up list). There is a list of disorders that you may consider covering at the bottom of this document. You may cover a disorder not included in the list, but you need to discuss the disorder you wish to cover with your instructor first to make sure it will be appropriate for the project.

Include the following:

  1. Discuss a genetic disorder and how it is passed down from generation to generation.

 

  1. The name of your genetic disorder

 

  1. Pattern of inheritance – Is this disorder dominant/recessive/sex-linked/autosomal?

 

  1. Give the genetic disorder’s genotype. Example: Trisomony on the 21st chromosome.

 

  1. List the symptoms and what happens to you if you have this genetic disorder?

 

  1. The phenotype of the disorder.

 

  1. Describe the defect that the disorder causes.

 

  1. Is there now, or was there ever a benefit to this genetic disorder?

 

  1. What may cause this genetic disorder? Mutation, radiation, etc.

 

  1. Is there any treatment or cures or light altering measures for this genetic disorder? Ex: special diets, medications, exercise – to survive this condition?

 

  1. Are certain people more likely to produce children with this genetic disorder?

 

  1. Frequency among human births.

 

  1. Is this disorder specific to certain country or climate? If so, describe.

 

  1. Add any additional information relevant to your chosen disorder.

Genetic Diseases to choose from:

  1. Cystic fibrosis
  2. Sickle-cell anemia
  3. Tay-sachs disease
  4. Down’s syndome
  5. Phenylketonuria (PKU)
  6. Hemophilia
  7. Huntington’s disease
  8. Albinism
  9. Muscular dystrophy (Duchenne)
  10. Polycystic Kidney (ARPKD)
  11. Hypercholesterolemia
  12. Klinefelter syndrome
  13. Turner Syndrome
  14. Edward’s Syndrome
  15. Patau’s Syndrome
  16. Fanconi Anemia
  17. Bartter’s Syndrome
  18. Hartnup’s Disease
  19. Kartagener’s syndrome
  20. Pyruvate Dehydrogenase Deficiency
  21. Prader-Willi Syndrome
  22. Fragil-X Syndrome
  23. XXX Syndrome
  24. Aldaptonuria
  25. Glucose-6-Phosphate Dehydrogenase

(G6PD) Deficiency

  1. Glycolytic enzyme deficiencies
  2. Homocystinuria
  3. Lesch-Nyhan Syndrome
  4. Maple Syrupe Urine Disease
  5. Ehler-Danlos Syndrome
  6. Osteogenesis Imperfecta
  7. Cori’s Disease
  8. Ataxia-Telangiectasia
  9. Chediak-Higashi sydrome
  10. Chronic Granulomatous Disease
  11. Chronic Mucocutaneous Candidasis
  12. Job’s Syndrome
  13. Selective IgA Deficiency
  14. Severe Combined Immunodeficiency

(SCID)

  1. Thymic Aplasia (DiGeorge Syndrome)
  2. Wiskott-Adririch Syndrome
  3. X-Linked Agammaglobulinemia

(Bruton’s Disease)

  1. Fabry’s Disease

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