Mendelian Inheritance of Human Disease

Question 1

Promotor and splice site sequence changes

Answer 1

Stop transcription or cause abnormal splicing

Question 2

Base change causing an amino acid change

Answer 2

• Change in protein sequence
• Not every base change causes disease
• This may or may not reduce protein function
• Some missense mutations make a protein work faster

Question 3

Insertion or deletion of bases

Answer 3

remember that 3bp encode 1 amino acid Mutations may be 􏰀in-frame􏰁 or 􏰀out of frame􏰁

Question 4

Trinucleotide repeat expansions

Answer 4

replication of a trinucleotide

Question 5

Disorders with Mendelian Inheritance

Answer 5

A change in a single gene, sufficient to cause clinical disease, is inherited in a fashion predicted by Mendel􏰀s laws:
- Autosomal dominant - Autosomal recessive X-linked (Mitochondrial)

Question 6

allelic heterogeneity

Answer 6

Different mutations in the same gene can cause the same disease

Question 7

locus heterogeneity

Answer 7

The same disease might be caused by mutations in one of several genes

Question 8

Nonpenetrance - mostly in dominant conditions

Answer 8

failure of a genotype to manifest

Question 9

Variable Expression - mostly in dominant conditions

Answer 9

different family members may show different features of a disorder