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Name of your Genetic Disorder: Sickle cell anemia

Gene locus on which chromosome:  11p15.5 - The Hemoglobin (HBB) gene is located in region 15.5 at the short (p) arm of the human chromosome number 11(Brown, R.T., 2006).

Type of disorder: Autosomal

Symptoms of the disorder:

  1. Dizziness;
  2. Jaundice;
  3. Headaches;
  4. Fatigue;
  5. Dactylitis;
  6. Splenic sequestration;
  7. Leg ulcers;
  8. Heart injury;
  9. Eye damage and
  10. Asepetic necrosis

Name of Normal Protein: Hemoglobin (HBB) protein

Function of the Normal Protein: HBB is present in the red blood cells. They are used to transport oxygen gas from the lung to all the other parts of the body to be used in the respiration process (Brown, R.T., 2006).

How is Mutant Protein Involved in the development of symptoms of the disorder?

If the mutant beta globin mutations exist in blood, the sickling of the red blood cells occurs.

Write a genetics problem of your own device: Hemophilia

Provide the solution to your problem. Include text and/or a Punnett square table explaining your solution. Include the appropriate probabilities.

Hemophilia can be controlled by the infusion of deficient clotting factors like Factor IX in hemophilia B or factor VIII in hemophilia A. It important to note that the mother is a carrier for this disorder and contain it in her X chromosomes. In case of a marriage, there will be chances of transmitting these genes to the offspring.

Probabilities:

  1.  In case the female parent is a carrier for hemophilia disease ( X H X then she gets  married to a man with hemophilia  ( X h Y),  the probability of getting a daughter with hemophilia is 25% of the offspring are daughters with genotype  X h X h

 

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