Humans Genetics

Question 1

What are the causes of human disorder

Answer 1

Most commonly by: inherited alleles

Altérations of chromosome structure
- DNA mutation
- partial deletion of DNA

Abnormal chromosome number

Question 2

What are altered proteins

Answer 2

The change of a single amino acid in a protein can lead to debilitating clinical phenotype ( disease)

Question 3

Give examples of disorders du to a dominant allele

Answer 3

• Huntingston’s disease (autosomal)
• Achondroplasia (autosomal)
• Progeria ( autosomal)
• ## Marfan’s syndrome (autosomal