Genetics of Inherited Disease Flashcards Preview

Pathology > Genetics of Inherited Disease > Flashcards

Flashcards in Genetics of Inherited Disease Deck (16):
1

CGA (Arg) > TGA (x) is a:

A. Missense mutation
B. Splice site mutation
C. Promotor mutation
D. Nonsense mutation

D. Nonsense mutation

2

What kind of mutation: TCT (Ser) > TCA (Ser)?

Silent

3

What kind of mutation: CAT (His) > CCT (Pro)?

Missense

4

What kind of mutation: TCAGCC> TAGCC?

Deletion

5

What kind of mutation: TCAGCC> TCAACCGCC?

Insertion

6

What kind of mutation: CAGCAG> CAGCAGCAGCAG?

Repeat

7

What is trisomy 21?

Down Syndrome

8

What is trisomy 18?

Edward's syndrome

9

What is trisomy 13?

Patau syndrome

10

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

11


Calculate the percent carriers for a recessive disease in a population with 16% affected individuals:

1. Carrier frequency is 48%
2. Carrier frequency is 32%
3. Carrier frequency is 24%
4. Carrier frequency is 16%

1. Carrier frequency is 48%

12

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)

13

Different phenotypes depending on the parental source of the mutation

Genomic Imprinting

14

The severity, signs and symptoms of the disease differs in patients due to different mutations in the same gene (allelic heterogeneity)

Variable Expressivity

15

Some cells have the mutations whereas others do not; can be gonadal or somatic

Mosaicism

16

How are mitochondrial diseases transmitted?

Only mother to child. Fathers do not transmit the disease.

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