Mendelian Inheritance Flashcards

1
Q

What do disease-associated mutations alter?

A

Protein structure and thus function

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

How many babies are born with sick cell disorders in UK?

A

1/2500

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is gene in affect and what does it cause in sickle cell disorders?

A

Abnormal haemoglobin gene and cause RBC to become sickle-shaped, causing pain, tissue damage, infection and death.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What genes do carriers have?

A

One functioning gene and one non/partially functioning gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

If both parents are carriers, and their sibling is affected, what is the chance of someone being a carrier?

A

2/3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

If one parent is a carrier and the other a non-carrier, what is there chance of child being a carrier?

A

1/2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What disorder results in carriers of condition to be less prone to getting malaria?

A

Sickle Cell

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

How many people are carriers for cystic fibrosis in UK?

A

1/25

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What type of gene mutation is cystic fibrosis?

A

Single gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

If one parent is a carrier of cystic fibrosis, what is the fraction of them having a baby which is affected?

A

1/100

1 in 4 chance of child getting it, times 1 in 25 chance of having cystic fibrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is achondroplasia?

A

Autosomal dominant disorder where an abnormality in one of the genes produces an abnormal protein, upsetting growth of bone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

If you know that one sibling is a carrier for a recessive genetic disorder (i.e. CF) what is chance of sibling being a carrier if they dont express condition?

A

1/2 (parents either FFxFf or FfxFf)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

In autosomal dominant disorder what is the chance of child being affected if one parent has disorder and one parent doesn’t?

A

1/2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Can a person be a carrier for a dominant condition?

A

No, as dominant allele expresses condition - unaffected child must have double recessive gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Principles of autosomal dominant inheritance?

A
  • 1/2 chance of inheriting
  • No skipped generation
  • Equally transmitted by men and women (male to male transmission)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What type of disease is Huntington’s disease?

A

Autosomal dominant

17
Q

What type of disease of cystic fibrosis?

A

Autosomal recessive

18
Q

What type of disease is Duchenne Muscular Dystrophy?

A

X-lined

19
Q

Principles of X-linked inheritance

A
  • Can skip generations
  • Unaffected women and affected men can transmit condition
  • No male to male transmission
20
Q

If a dad was affected and a mother not, what are the chances of a son having an x-linked disease?

A

0

21
Q

If a dad was affected and a mother not, what are the chances of a daughter having an x-linked disease?

A

1

22
Q

If a mother was affected and a dad not, what are the chances of any child having an x-linked disease?

A

1/2