Genetic Disorders

Question 1

Epigenetic

Answer 1

phenotype changes
that do not involve alterations in
the DNA sequence.

Question 2

Genetic mutations

Answer 2

1.Point mutations :
- no change in length of the genetic material
a. missense mutation
b. Nonsense mutation
c. Silent mutation
2. Length mutations
- change in length of the genetic material
a. Deletions and insertions (Frame-shift mutation)
b.Trinucleotide repeat mutation

Question 3

Example of missense mutation

Answer 3

E.g.mutation in hemoglobinin ß-globin chain in sickle cell
anemia

Question 4

“Frameshift” mutations

Answer 4

• is a genetic mutation caused by indels (insertions or
deletions) of a number of nucleotides in a DNA sequence
• can change the reading frame

Question 5

Human genetic disorders can be broadly classified into three
categories:

Answer 5

1. Disorders related to mutations in single genes with large
   effects
2. Chromosomal disorders
3. Complex multigenic disorders

Question 6

Autosomal Dominant disorders

Answer 6

incomplete penetrance
• Variable expression

Question 7

Autosomal Dominant Disorders

Answer 7

• Diseases Caused by the Mutations in Genes Coding Structural
Proteins
• Marfan Syndrome
• Ehlers-Danlos Syndrom (EDS)
• Diseases caused by the mutations in Genes coding receptor
proteins
―Familial Hypercholesterolemia
• Diseasas associated with Defects in proteins that regulate cell
growth
• Neurofibromatosis