Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Principles of Disease > Inheritance > Flashcards

Inheritance Flashcards

1
Q

What is the normal male genotype?

A

XY.

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

What is the normal female genotype?

A

XX.

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

What is sickle cell disorder caused by?

A

Abnormal haemoglobin gene.

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

What is cystic fibrosis caused by?

A

Single gene.

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

How many people are affected by CF?

A

1/25 carrier

1/2500 affected

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

What chance does each child have of inheriting trait in autosomal dominant inheritance?

A

50%

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

Does autosomal dominant inheritance skip generations?

A

No.

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

What are examples of autosomal dominant inheritance?

A

Achondroplasia

Huntington’s Disease

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

What is achondroplasia?

A

Autosomal dominant- dwarfism.

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

What is Huntington’s disease?

A

Autosomal dominant- neurodegenerative.

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

What is Duchennes Muscular Dystrophy caused by?

A

X-linked.

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

Who is affected in X-linked inheritance?

A

Males.

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

Can X-linked inheritance skip generations?

A

Yes.

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

Who can transmit in X-linked inheritance?

A

Unaffected women and affected men.

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

Is male-male transmission present in X-linked inheritance?

A

No.

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

What are the 3 types of chromosome abnormality?

A

Numerical
Structural
Mutational

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What are numerical abnormalities based on?

A

Trisomy

Monosomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What is non-dysjunction?

A

The failure of homologous chromosomes to separate properly during cell division.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What are autosomal aneuploidy syndromes?

A

The presence of an abnormal number of chromosomes in a non-sex chromosome.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What are 3 examples of autosomal aneuploidy syndromes?

A

Down syndrome
Patau syndrome
Edwards syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is a Trisomy 21 aneuploidy syndrome?

A

Downs syndrome.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What characterises Down syndrome?

A

Facial dysmorphologies, low IQ, lower life expectancy.

23
Q

What is a Trisomy 13 aneuploidy syndrome?

A

Patau syndrome.

24
Q

What characterises Patau syndrome?

A

Mental retardation / facial dysmorphia.

25
Q

What is a Trisomy 18 aneuploidy syndrome?

A

Edwards syndrome.

26
Q

What characterises Edwards syndrome?

A

Severe developmental problems.

27
Q

What are sex chromosome aneuploidy syndromes?

A

Syndromes of abnormal chromosome number in sex chromosomes.

28
Q

Give 2 examples of sex chromosome aneuploidy syndromes.

A

Turner

Klinefelter

29
Q

What happens in Turner syndrome?

A

X chromosome loss- wide nipples, short stature, infertile, neck webbing.

30
Q

What happens in Klinefelter syndrome?

A

Extra XXY chromosome- tall stature, long limbs, male but infertile, small testes, mild learning difficulties.

31
Q

What can mutational abnormalities be?

A

Balanced or unbalanced.

32
Q

What are the 4 types of mutational abnormality?

A

Silent
Missense
Nonsense
Frameshift

33
Q

What is a silent mutation?

A

Synonymous with normal function.

34
Q

What is a missense mutation?

A

Doesn’t fit.

35
Q

What is a nonsense mutation?

A

Stop codon- prevents development.

36
Q

What is a frameshift mutation?

A

Deletion / insertion.

37
Q

What are the differences between the general genome and the mitochondrial genome?

A

General has more genes, less coding though.

Nuclear deals with mendelian inheritance; mitochondrial deals with maternal inheritance.

38
Q

What shape is mitochondrial DNA?

A

Loop.

39
Q

How many copies of genes are in nuclear genome?

A

2

40
Q

How many copies are in mitochondrial genome?

A

Thousands- polyploidy present.

41
Q

What is homoplasmy / heteroplasmy?

A

The fact that mitochondrial DNA can be from same or different populations.

42
Q

Why is the mitochondrial genome a mutation hotspot?

A

Lack efficient DNA repair system

Lack protective proteins.

43
Q

What are examples of mitochondrial disease?

A

LHON

MELAS

44
Q

What is genomic imprinting?

A

When genes are expressed from only one chromosome.

45
Q

What happens with 2 maternal genomes?

A

Normal embryo

Abnormal membrane / placenta

46
Q

What happens with 2 paternal genomes?

A

Abnormal embryo

Normal membrane / placenta

47
Q

What are some human models of genetic imprinting?

A

Angelmans syndrome

Prader-Willi

48
Q

Is Prader-Willi or Angelmans maternal?

A

Prader-Willi.

49
Q

What does Angelmans syndrome lack?

A

Lacks maternal chromosome.

50
Q

What does Prader-Willi syndrome lack?

A

Lacks paternal chromosome.

51
Q

What does methylation do?

A

Marks the chromosome- stops transcription.

52
Q

How are famine and schizophrenia linked?

A

Famine exposure provides increased link to schizophrenia.

53
Q

What is the polygenic risk score?

A

Risk factor scale for polygenic risk.

Principles of Disease (22 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions