Genetics of Inherited Disease Flashcards
CGA (Arg) > TGA (x) is a:
A. Missense mutation
B. Splice site mutation
C. Promotor mutation
D. Nonsense mutation
D. Nonsense mutation
What kind of mutation: TCT (Ser) > TCA (Ser)?
Silent
What kind of mutation: CAT (His) > CCT (Pro)?
Missense
What kind of mutation: TCAGCC> TAGCC?
Deletion
What kind of mutation: TCAGCC> TCAACCGCC?
Insertion
What kind of mutation: CAGCAG> CAGCAGCAGCAG?
Repeat
What is trisomy 21?
Down Syndrome
What is trisomy 18?
Edward’s syndrome
What is trisomy 13?
Patau syndrome
Osteogenesis imperfecta is an inherited disease that affects collagen formation. What type of Osteogenesis Imperfecta involves haploinsufficiency?
A. Type 1 with a missense mutation in pro‐collagen α1
B. Type 1 with a null mutation in pro‐collagen α1
C. Type 2 with a missense mutation in pro‐collagen α1
B. Type 1 with a null mutation in pro‐collagen α1
Calculate the percent carriers for a recessive disease in a population with 16% affected individuals:
- Carrier frequency is 48%
- Carrier frequency is 32%
- Carrier frequency is 24%
- Carrier frequency is 16%
- Carrier frequency is 48%
Connect term ‘variable expressivity’ with explanations:
A. some cells have the mutations whereas others do not; can be gonadal or somatic
B. different genes contribute the same disease
C. the severity, signs and symptoms of the disease differs in patients (due to different mutations in the same gene, environmental factors etc)
D. not all patients with the disease genotype express symptoms
C. the severity, signs and symptoms of the disease differs in patients (due to different mutations in the same gene, environmental factors etc)
Different phenotypes depending on the parental source of the mutation
Genomic Imprinting
The severity, signs and symptoms of the disease differs in patients due to different mutations in the same gene (allelic heterogeneity)
Variable Expressivity
Some cells have the mutations whereas others do not; can be gonadal or somatic
Mosaicism
