Brainscape's Knowledge GenomeTM

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


See full index

Pathophysiology > Exam 2: Genetics > Flashcards

Exam 2: Genetics Flashcards

1
Q

What is a genome?

A

the total DNA in an organism

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

Why is a genome important to an organism?

A

a genome is required to make the organism and required for the organism to function properly

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

When was the human genome project begun?

A

in 1990

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

What do our genes determine?

A

our disease susceptibility and how we may react to certain diseases

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

What was the first drug produced due to the genome?

A

insulin

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

What is gene mutation?

A

biochemical event leading to the change of DNA sequence

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

What is polymorphism?

A

more than one normal allele (alternate forms) at the same locus

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

What is an example of polymorphism?

A

blood type

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

What is meant by congenital?

A

its a deformity acquired in-utero (not later on)

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

What is a genotype?

A

genetic composition/information stored in the triplet codes in DNA (not evident by observation)

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

What is a phenotype?

A

an expressed character trait (physical/outward expression) of the genotype

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

What is meant by polygenic inheritance?

A

multiple genes at different loci, affecting 1 trait (hair color)

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

What is meant by multifactorial inheritance?

A

same as polygenic inheritance but includes environmental factors

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

What is a karyotype?

A

numeric classification system of autosomes and sex-chromosomes

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

What is meant by homozygous?

A

the same allele

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

What is meant by heterozygous?

A

its a mixture of dominant and recessive alleles

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

What is gene penetrance?

A

the ability of a gene to express its function

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

What is gene expression?

A

the degree to which the phenotype of the gene is expressed

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

What is the role of chromosomes?

A

to store basic genetic information

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

How many pairs of chromosomes do humans have?

A 
23 pairs (22 autosomes and 1 pair of sex chromosomes)
- females: 46, XX
  • males: 46, XY
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Who is impacted by X-lined genetic disorders?

A

males

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

Where are DNA molecules stored?

A

in the nucleus of each human cell

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

What is the structure of a DNA molecule?

A

double stranded helix

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

What is the DNA carried by?

A

4 nitrogenous bases

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

What are the 4 nitrogenous bases?

A

guanine, adenine, cytosine, thymine

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

Cytosine is matched with:

A

guanine

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

Adenine is matched with:

A

thymine

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

The pyrimidine bases are:

A

thymine and cytosine

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

The purine bases are:

A

adenine and guanine

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

What is used to build proteins?

A

triplet codes (codons)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What is a gene?

A

a sequence of triple codes (hundreds to millions) that code for a specific function

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Approximately how many genes do humans have?

A

30,000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What does DNA determine?

A

the type of biochemical product that the cell will form

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What is the role of M-RNA?

A

it is used as a template to make proteins and it recognizes the start and end of gene sequence, which creates MRNA from DNA (transcription)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What is the role of T-RNA?

A

it delivers amino acid to the ribosomes to make proteins (protein synthesis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What is the role of R-RNA?

A

it is responsible for protein synthesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

What is induction?

A

process by which gene expression is increased

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

What is an example of influences that promote induction?

A

external influences such as diet or radiation therapy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What is gene repression?

A

process by which a regulatory gene reduces or prevents expression of a gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Gene expression is possibly influenced by:

A

transcription factors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

There are factors allowing genes and characteristics to be expressed ________ to each person

A

individualistic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

What are gene mutations?

A

accidental, rare errors in DNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What are gene mutations corrected by?

A

DNA repair mechanisms in the cell

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

How does mutations occur?

A

from substituting bases, adding/deleting bases or rearranging

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

This point mutation switches one nucleotide for another (CAC becomes CGC):

A

substitution

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

This point mutation adds an extra nucleotide (CAC becomes CATC):

A

insertion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

This point mutation omits a nucleotide (CAC becomes CC):

A

deletion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

What is translocation of gene mutation?

A

when two breaks occur in two chromosomes from different pairs and broken fragments swap places

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

When can transcription errors occur?

A

when RNA is synthesized from DNA template

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

What are the cause of most early spontaneous pregnancy losses or significant fetal malformations?

A

gene mutations

51
Q

What mutations can be inherited?

A

ones that occur in the germ cells (ovum/sperm)

52
Q

What mutations cannot be inherited?

A

ones that occur in somatic cells

53
Q

What are some examples of conditions caused by gene mutations during early embryonic?

A
  • cleft pallet

- club foot

54
Q

Mutations occurring later in life can cause cancer and be caused due to what factors?

A

exposure to environmental or chemical agents

55
Q

Radiation treatments for cancer has the potential to cause:

A

another form of cancer

56
Q

What are some examples of mutagenic agents that can cause cancer?

A
  • radiation
  • viruses
  • chemicals
  • uv light
  • sun exposure (sun exposure -> damages cellular DNA -> skin cancer)
57
Q

Genotype can never be predicted because it can be:

A

homozygous dominant or heterozygous
(ex: two people with the same phenotype - brown eyes - can have two different genotypes, if one is a carrier of blue eyes - Bb and BB)

58
Q

What does transcription factors do?

A

bind to DNA that regulate time of transcription and either activate or repress gene expression

59
Q

What is expressivity?

A

the many different ways a phenotype can be expressed; can range from mild to severe

60
Q

What does expressivity depend on?

A

the transcription factors, they tell the DNA to express or repress a gene
(ex: polydactyly - can have a extra digit on one appendage or all and it can be full sized or smaller)

61
Q

What is penetrance?

A

a specific genes ability to express itself in a population where everyone has the same genotype
(ex: polydactyly - if penetrance is 75% in a certain population, 75% will have an extra digit)

62
Q

During penetrance, either the gene will be:

A

expressed or it won’t

63
Q

In this type of inheritance, there are multiple genes at different loci with each gene on the loci exerting an additive effect in determining the trait:

A

polygenic

64
Q

Polygenic inheritance has no:

A

environmental influence

65
Q

What are some examples of polygenic inheritance?

A
  • eye color

- skin color

66
Q

In this type of inheritance, there are multiple genes at different loci, affecting the trait to be displayed and includes environmental influence

A

multifactorial

67
Q

Multifactorial inheritance includes:

A

environmental influence

68
Q

What are some examples of multifactorial inheritance?

A
  • CAD (at least 15 genes)
  • ​height (100)
    ​- alcoholism (multiple)
  • diabetes (multiple)
69
Q

Why is height multifactorial?

A

because it includes genetics and environmental

70
Q

What is meant by multiple alleles?

A

there is more than one allele affecting the same trait (ex: ABO blood type)

71
Q

_____ is the position of the gene on a chromosome:

A

locus

72
Q

_____ is the alternate forms of the same genes at the same locus:

A

alleles (can be dominant or recessive)

73
Q

What law refers to the predictability of genetic transmission when a single gene expression is at work?

A

mendel’s laws

74
Q

What is an example of a homozygous individual trait according to mendel’s law?

A

BB or bb

75
Q

What is an example of a heterozygous individual trait according to mendel’s law?

A

Bb

76
Q

A _______ is heterozygous without expressing the trait

A

carrier

77
Q

These disorders are caused by a defective gene at a single locus and characterized by pattern of inheritance (dominant/recessive or autosome/sex chromosome):

A

single gene disorders

78
Q

What can single gene disorders lead to?

A

abnormalities in protein synthesis and enzyme production as well as some severe illnesses

79
Q

These conditions types are rare due to variable penetrance but they are more common due to dominance:

A

single gene autosomal dominant conditions

80
Q

The homozygous dominant version of this single gene autosomal dominant condition is fatal:

A

achondroplastic dwarfism

81
Q

This single gene autosomal dominant condition leads to brittle bones due to defects in collagen synthesis:

A

osteogenesis imperfecta

82
Q

A patient comes to the ED presenting s/sx of a MV prolapse, weak aorta, arachnodactyly, hyper-extendible joints and vertebral issues. What condition do you think this patient has?

A

marfans syndrome/abraham lincoln

83
Q

What type of disorder is marfans syndrome?

A

single gene disorder (autosomal dominant)

84
Q

What is meant by autosomal dominant?

A

a person needs one gene from one parent and is caused by a lack of certain proteins that regulate DNA to grow /develop properly

85
Q

What systems are affected by marfans syndrome?

A
  • ocular system
  • cardiovascular system
  • skeletal system
86
Q

What are some s/sx of marfans syndrome?

A
  • mv prolapse
  • weak aorta
  • arachnodactyly (long extremities)
  • pectus excavatum/carinatum - outward/inward sternum
  • hyper-extendible joints
  • vertebral issues (scoliosis, kyphosis)
  • retinal detachment
87
Q

What is someone with marfans syndrome at risk for?

A

aneurysm in the aorta

88
Q

What is the treatment for marfans syndrome?

A

no true treatment but you can repair the aorta and surgically repair the sternum

89
Q

A patient with an intellectual disability is brought into the ED with seizures and paralysis and also suffers from vision loss. What condition does this patient have?

A

tay sachs

90
Q

What type of disorder is tay sachs?

A

single gene disorder (autosomal recessive)

91
Q

What effect does tay sachs have on the neurological system?

A

it progressively destructs neurons in the brain and spinal cord

92
Q

When does the most common form of tay sachs appear?

A

in infancy around 3-6 months when development starts to slow and muscles weaken

93
Q

What symptoms does tay sachs progress into?

A
  • seizures
  • vision/hearing loss
  • intellectual disability
  • paralysis
94
Q

What is a diagnostic sign of tay sachs?

A

the cherry red spot in the eye (which is the accumulation of lipids)

95
Q

How long does a patient with tay sachs live?

A

into early childhood

96
Q

In sex linked disorders, the x-link allows females to be the carriers but not express the disease. Therefore, males will automatically express the gene if:

A

they get that particular x chromosome from the mom

97
Q

This is a single sex linked gene that involve a group of disorders in which the blood does not clot properly

A

hemophilia

98
Q

What do those with hemophilia lack?

A

normal factor VIII which prevents them from clotting normally

99
Q

This is the most common form of hemophilia that lacks normal factor VIII:

A

hemophilia A

100
Q

How can hemophilia be treated?

A
  • by supplementing factor VIII (drug)
  • can be transfused (expensive with multiple risks)
  • biotech factor VIII from bacteria (less health risks)
101
Q

This is a sex-linked recessive disorder affecting 8% of males and 0.04% of females

A

color blindness

102
Q

What does color perception depend on for those who suffer from color blindness?

A

3 different genes, each producing chemicals sensitive to different parts of the visible light spectrum

103
Q

Where are red and green detecting genes on?

A

x chromosome (most common)

104
Q

Where is the blue detecting gene on?

A

autosomal trait

105
Q

Multifactorial disorders are when multiple genes are involved in inheritance (threshold phenomenon) and can be:

A
  • congenital (cleft lip/palate, club foot, congenital heart disease, urinary tract malformation)
  • environmental (CAD, HIV, diabetes, cancer, bipolar, schizophrenia)
106
Q

When considering environmental factors, remember that:

A

you have the genetic predisposition, but your environment can heighten your risk for certain diseases

107
Q

What is the period of vulnerability for environmental factors on fetal development?

A

by 2 weeks, the CNS is extremely vulnerable and this vulnerability lasts until 20-22 wks up to 2 years

108
Q

What are some examples of teratogenic agents?

A
  • alcohol
  • drugs
  • radiation
  • chemicals
  • infectious agents
  • exposure to any of these can alter genetic expression of the fetus*
109
Q

This condition is a combination of physical, cognitive and behavioral abnormalities caused by alcohol during pregnancy:

A

fetal alcohol syndrome

110
Q

Fetal alcohol syndrome is usually due to the mom having the inability to:

A

know she was pregnant within 2 weeks of pregnancy

111
Q

Fetal alcohol syndrome can result in:

A
  • prenatal/postnatal growth retardation
  • permanent effects on CNS
  • characteristic facial features (flat nose bridge, microcephaly, epicanthal foldsm short nose, thin upper lip, small chin, microcephaly, smooth philtrum, etc.)
112
Q

Fetal alcohol syndrome is not hereditary but what does it influence?

A

the genetic cellular expression in the brain and is an alcohol induced phenotype

113
Q

This is a autosomal dominant condition that progressively destroys the brain cells and is not normally manifested until after the age 30 (esp. in 40’s)

A

huntingtons disease

114
Q

When is huntingtons disease manifested?

A

If a parent has the disease, 50% of the children will have it (unless the parent was homozygous dominant)

115
Q

What is a sign of huntingtons disease?

A

dyskinesia (extremities/body parts don’t move/work together - they cannot talk or move properly)

116
Q

In the blood type, multiple alleles are involved, making A and B _____ whereas O is ________

A

dominant; recessive

117
Q

The body creates ______ to the blood type you don’t have:

A

antibodies

118
Q

In the Rh factor, positive is ______ and negative is ______. Rh factor is inherited separately from blood type

A

dominant; recessive

119
Q
  1. A+A =
  2. A+O =
  3. A+B =
  4. B+B =
  5. B+O =
  6. O+O =
A
  1. A
  2. A
  3. AB
  4. B
  5. B
  6. O
120
Q

This condition is autosomal recessive (both parents) and results in harmful amounts of fat accumulation in the spleen, liver, brain, lungs and bone marrow. It is very common in people with a polish, jewish and russian background:

A

nieman-pick disease

121
Q

Lipid storage disorders are a subgroup of diseases known as:

A

sphinogolipidases

122
Q

What causes a complete deficiency of sphinogomyelinase?

A

missense mutation

123
Q

What does a deficiency of sphinogomyelinase result in?

A

fat build up within the lysosomes causing lipids to not be destroyed and cells to become enlarged

Pathophysiology (10 decks)

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