Brainscape's Knowledge GenomeTM

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


See full index

Genetics > Week 5- Molecular Disease > Flashcards

Week 5- Molecular Disease Flashcards

You may prefer our related Brainscape-certified flashcards:
Biology 101 flashcards
1
Q

What are the four effects of mutation on protein function ?

A
  • Loss of function mutation
  • Gain of function mutation
  • Novel property mutation
  • Heterochronic or ectopic gene expression
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are four disorders associated w/ loss of function?

A

Thalassemias
Turner syndrome
retinoblastoma
PKU

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

What do novel property mutations result in?

A

Change aa in protein due to mutation

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

What is an example of a novel property mutation?

A

Sickle cell disease

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

What are heterochronic or ectopic gene expression due to?

A

Genes expressed at wrong time or in wrong place

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

When do alpha hemaglobinopathies affect individuals?

A

as a fetus and adult

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

When do beta hemoglobinopathies affect individuals?

A

Post natal life

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

what are the two types of hemoglobinopathies

A

Structural variants

Thalassemias

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

what causes sickle-cell anemia?

A

Single nucleotide substitution
Changes of codon of 6th aa of Beta-globin
glutamic acid turns into a valine

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

If you are homozygous for the sickle-cell anemia trait what do you have?

A

Sickle cell disease

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

Who carries the sickle cell trait?

A

Individuals heterozygous for the sickle-cell trait

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

When Fe in heme group is oxidized, what happens?

A

Methemoglobin is created- can’t do reversible oxygenation

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

What does methemoglobin reductase do?

A

Reduces Fe

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

What happens in Hb Hyde Park?

A

Individual is resistant to methemoglobin reductase

Individuals becomes cyanotic

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

What happens with Hb Kempsey?

A

Hb locked into high O2 affinity- causes polycythemia because not enough oxygen is getting to the tissues so body produces more RBC

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

What type anemia do thalassemias lead to?

A

Hypochromic, microcytic anemia

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

in alpha thalassemias, what do beta chains form?

A

Homotetrameric hemoglobin- inefffective O2 carrier

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

In severe forms of alpha thalassemias- what happens?

A

Intrauterine hypoxia (baby born in congestive heart failure)

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

What happens with mild forms of alpha thalassemias?

A

Anemia

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

What is the most common form of alpha thalassemias?

A

Deletion of alpha-globin genes

due to unequal crossing over (SE Asia)

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

What happens in a ZF deletion in alpha thalassemias?

A

silences the alpha 2 globin gene (alpha 1 destroyed)

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

what is ATR-X syndrome?

A

Thalassemia and mental retardation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What type of disorder is ATR-X syndrome?

A

X-linked; mutation of ATRX gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What type anemia is there in beta thalassemias?

A

hypochromic, microcytic anemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What is beta thalassemia usually due to?

A

Single bp substitution

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What usually creates alpha thalassemia?

A

Deletion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What type of thalassemia have a very large number of allele forms?

A

Beta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What causes thalassemia major?

A

two thalassemia alleles

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What causes thalassemia minor?

A

1 Beta thalassemia allele

Have slight anemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

If a person has thalassemia major- are their alleles for the disorder likely identical or different?

A

Different

31
Q

What can cause defective mRNA synthesis in Beta thalassemias?

A

splicing, promoter, cap, poly A tail

32
Q

What can produce non-functional mRNAs in beta thalassemias?

A

nonsense and frameshift mutations

33
Q

Where are housekeeping genes found?

A

Virtually all cells

34
Q

What do housekeeping genes do?

A

Maintenance of cell structure and function

35
Q

If you have a mutation in a housekeeping gene- where are the disorders found?

A

In the same tissue

36
Q

What is Allelic heterogeneity ?

A

Multiple alles at a locus

alleles that confer residual function create milder form of disease

37
Q

What is Locus heterogeneity ?

A

more than 1 locus for a condition

38
Q

What are two disorders that have modifier genes?

A

Thalassemia and cystic fibrosis

39
Q

What is the best example of an aminoacidopathy?

A

hyperphenylalaninemias

40
Q

What are abnormalities in hyperphenylaninemias due to?

A

Loss of function in PAH gene or genes required for proper cofactor (BH4)

41
Q

What can’t you turn phenylalanine into in hyperphenylalaninemias?

A

tyrosine

42
Q

What type of disorder is phenylketonuria?

A

Autosomal recessive- mutations in PAH

43
Q

in lysosomal storage diseases- what is the a genetic defect in?

A

lysosomal hydroxylase enzymes

44
Q

What do all lysosomal storage diseases have in common?

A

Substrates accumulate

unrelenting progression

45
Q

What happens to the brain in lysosomal storage diseases?

A

Neurodegenerative disorder

46
Q

What type of mutations are lysosomal storage diseases?

A

Autosomal recessive

47
Q

In Tay-Sachs a deficiency in ______ leads to an accumulation of ________

A

a deficiency of hexosamidiase A (hex A) leads to Sphingolipid (ganglioside) accumulation

48
Q

How many enzymes create hex A?

A

3 enzymes

49
Q

Tay Sachs is a ____ deficiency.

A

HEXA

50
Q

what are two types of Mucopolysaccharidoses?

A

Hunter syndrome

Hurler syndrome

51
Q

What is the inheritance pattern of Hunter syndrome?

A

X-linked recessive

52
Q

What is the inheritance pattern of Hurler syndrome?

A

Autosomal recessive

53
Q

What symptoms are found in both hunter and hurler?

A

mental retardation, skeletal abnormalities, short stature

54
Q

What is I cell disease due to?

A

Loss of glycosylation (enzymes are properly directed to lysosomes but are out in body)

55
Q

What has an individual gained in MSMD (Mendelian susceptibility to mycobacterial disease
)

A

glycosylation

56
Q

What is homocystinuria due to?

A

Inability to effectively break down homocysteine

57
Q

What is there a deficiency of in homocystinuria?

A

Cystathionine synthase - impaired cofactor binding

58
Q

What causes familial hypercholesterolemia?

A

Mutations in LDL receptor or 3 other genes

59
Q

What transmission pattern does familial hypercholesterolemia have?

A

Autosomal trait- semi dominant, has dosage effect

60
Q

What is affected in cystic fibrosis?

A

Lungs and exocrine pancreas (thick secretions)

61
Q

What is the cystic fibrosis gene?

A

CFTR

62
Q

Why can’t individuals with cystic fribrosis digest foods?

A

Pancreatic defect

63
Q

What population does duchenne muscular dystrophy affect?

A

boys normal for 1-2 years, unlikely to live past 20

64
Q

In MSMD (Mendelian susceptibility to mycobacterial disease), and individual has multiple genetic defects that eliminate the bodies ability fo fight what?

A

Infection

65
Q

What is the milder form of muscular dystrophy?

A

Becker, only produce some dystrophin; has proper reading frame

66
Q

What is a group of disorders where individual easily fracture bones?

A

Osteogenesis Imperfecta

67
Q

Where do 90% of mutations in osteogenesis imperfecta occur?

A

COLIAI
COLIA2
Both code for chains in type I collagen

68
Q

What decades does Alzheimers Disease manifest in?

A

6th to 9th

69
Q

Where is there degeneration of neurons in Alzheimers Disease?

A

Cerebral Cortex and HIppocampus

70
Q

What Hb disorder causes polycythemia?

A

Hb Kempsey

71
Q

What codon does sickle cell disease affect?

A

Changes of codon of 6th aa of Beta-globin

72
Q

What disease involves a loss of glycosylation?

A

I-Cell Disease

73
Q

What disease involves a gain of glycosylation?

A

Mendelian Suspectiability to Mycobacterial Disease (MSMD)

Body can’t fight infection

74
Q

In Becker muscular dystrophy, the DNA sequence still have the proper ______ which leads to less destructive effects?

A

Reading frame

Genetics (10 decks)

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