Modes Of Inheritance Flashcards

You may prefer our related Brainscape-certified flashcards:
1
Q

What is an autosomal dominant condition?

A

A condition where only one faulty allele is needed for the condition to be expressed

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

Who do autosomal dominant conditions manifest in?

A

They mainfest in heterozygotes

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

What are the effects of autosomal dominant conditions?

A
  1. Gain of function
  2. Insufficient amounts of protein being produced
  3. Dominant negative effect
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is an example of an autosomal dominant condition?

A

Huntingtons

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

What type of pedigree pattern do autosomal dominant conditions show?

A

Vertical pedigree pattern

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

What causes Huntingtons disease?

A

expansion of a CAG repeat which results in mutant proteins being produced which interfere with the functioning of normal nerve cells

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

What is meant by gain of function?

A

Gain of function is where the protein becomes hyperactive, and it is this hyperactivity which results in the onset of the disease

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

What is meant by a dominant negative effect?

A

Dominant negative effect is where the protein produced interferes with the functioning of the normal protein

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

How do autosomal dominant conditions effect men and women?

A

They affect men and women equally

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

What are autosomal recessive conditions?

A

where you need two copies of the allele in order for the condition to be expressed

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

What are the usual effects of autosomal recessive conditions?

A

Loss of function - having both copies results in a completely malfunctioning protein

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

What type of pedigree pattern do autosomal recessive conditions show?

A

Horizontal pedigree

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

What can increase the risk of autosomal recessive conditions?

A

Consangious marriages

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

Why can autosomal recessive conditions skip generations?

A

Due to the high chance of being a carrier

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

How are men and women affected with autosomal recessive conditions?

A

They are affected equally

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What type of chromosomes are autosomal recessive genes located on?

A

Non-sex chromosomes

17
Q

What percentage of DNA is shared between first cousins?

A

12.5%

18
Q

Who do X-linked recessive conditions mainly affect?

A

Men

19
Q

How can females have an X linked recessive condition?

A

They have to be homozygous for the condition

20
Q

What is the chance of a daughter of an affected male being a carrier of an X Linked recessive condition?

A

100%

21
Q

What is an X linked recessive condition?

A

Where the alleles are located on the sex chroosomes, and since males have XY, a portion of their second chromosome is missing, meaning males have an increased risk of the condition as if they only need the one recessive allele to have the condition

22
Q

What happens to the daughters and sonds of an affected father and unaffected mother of an X linked dominant condition?

A

Daughters - They are all affected

Sons - none affected

23
Q

Who do Y linked disorders affect?

A

Only men as females do not have Y chromosome

24
Q

What type of pedigree pattern do Y linked disorders show?

A

Vertical patern with only males affected

25
Q

Who are all your mitochondria inherited from?

A

Mother

26
Q

A mother has a mitochondrial condition. What happens to her children?

A

They are all affected

27
Q

Why do the expression of mitochondrial conditions vary massively in a family?

A

When the mitochondria replicate, genes can be lost r gained meaning there is an enourmous amount of variation

28
Q

What type of inheritance is it when children of unaffected parents are affected?

A

X Linked recessive

29
Q

What type of inheritance is it when all children of an affected mother are affected?

A

Mitochondrial