autosomal dominant diseases

 Autosomal Dominant Diseases

Autosomal Dominant Diseases are;

1. Huntington disease

2. Marfan Syndrome; affect connective tissue

3. Li-fraumeni syndrome; cancer Predisposition syndrome

4. Neurofibromatosis; tumor form in brain, spinal cord, nerves

5. Adult polycystic kidney disease

6. Hypertrophic cardiomyopathy; Heart muscle becomes abnormally thick

7. Achondroplasia; short-limbed dwarfism

8. Familial hypercholesterolemia; caused by defect on chromosome 19. (Body unable to remove Low density lipoprotein,  LDL level from blood resulting high LDL in blood.

9. Myotonic dystrophy

(Progressive muscle loss and weakness)

Autosomal Dominant Inheritance

Single copy of disease - associated mutation is enough to cause disease.

Get the abnormal gene from only one parent, can get disease.

Inheritance;

1 parent affect = 50% of off spring affected, 50% of off spring not affect 

Father (affected)     Mother (unaffected)

✓X     ✓✓       ✓; working gene, X; Non-working gene

✓✓, ✓✓ (Children don't have the condition), 50% children not have the condition.                 

X✓, X✓ (Children have the condition), 50% children have the condition.

If trait is dominant, one of parent must have trait. Affected children usually have an affected parent.