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Human Genetics Concepts for Healtcare > Lecture 1 > Flashcards

Lecture 1 Flashcards

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1
Q

Result of certain pathogenic process that disrupts well-being of organism

A

Disease

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2
Q

Disease process could be

A

Infectious

Noninfectious

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3
Q

Example of pathogenic process

A

Aging

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4
Q

Not spreading means

A

Noninfectious disease

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5
Q

What are the stages to disability?

A

Well Being
Dis-ease
Disease
Disability

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6
Q

Disease that lasts longer than 3 months

A

Chronic Disease

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7
Q

Disease that last less than 3 months

A

Acute Disease

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8
Q

Causes inflammation in the mucous lining in the nose and throate

A

Cold Virus/Adenovirus

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9
Q

Viral Infection of respiratory tract

A

Influenza

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10
Q

Kissing Disease

A

Mononucleosis

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11
Q

Virus that multiplies in the lymphocytes

A

Mononucleosis

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12
Q

Epstein-Barr Virus

A

Mononucleosis

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13
Q

Infection with virus is not equal to having a disease

A

True

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14
Q

In children infected with EBV, no symptoms or disease is indistinguishable from the other illness in childhood

A

True

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15
Q

EBV Latency Infects which type of cells

A

B Cells

Epithelial Cells

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16
Q

EBV resides in ____ & _____ for the rest of your life.

A

B cells, remains latent

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17
Q

EBV is able to reactivate a virus and shed viral particles

A

True

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18
Q

What is the difference between latent and persistent infections?

A

Latent -> Rhinovirus, Rotavirus, Influenze Virus

Persistent -> Lymphocytic choriomeningitis virus

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19
Q

EBNA-1

A

Involved in promoting viral DNA replication

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20
Q

EBNA-2

A

Transcription factor with viral and host cell targets

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21
Q

LMP1

A

Expression in rodent cell lines results in transformation

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22
Q

LMP2

A

Associates with src and several other tyrosine kinases

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23
Q

What are immunosupressin treatments?

A

Suppress EBC when it takes over the B lymphocyte

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24
Q

Child or rare adult who was never infected before onset immuno suppression lacks prior immunity, placing the patient at high risk for active viral infection and progression to neoplasia.

A

True

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25
Does the risk of tumors increase post-transplant?
Yes; True
26
How are normal cells different from latent EBV infected cells?
Expresses a number of alien genes and some host genes are expressed stronger than they should. EBV's apoptotic viral genes provide a survival advantage to the lymphocyte that carries EBV
27
Expression leads to B cell lymphoma; expression in fibroblasts leads to tumors in nude mice
LMP1
28
accelerates B Cell Proliferation
LMP1
29
Does LMP1 inhibit apoptosis
Yes
30
Normal Cells infected with certain viruses can be transformed into cancer cells due to expression or activation of
Viral Oncogenes
31
Human Diseases are classified by
Chromosomal Disorders Single-gene Disorders (Mendelian) Polygenic (complex/multifactorial)
32
Single-Gene Disorders are typically found at
Birth
33
Multifactorial Diseases are typically found at
Adulthood | can also be found at Single-Gene Disorders
34
How to find whether certain disease has a genetic component?
1. Classic Family Study 2. Twin studies 3. Adoption studies
35
Classical Family Study
Identify the family Determine the proportion of the relatives affected Calculate the lifetime risk
36
1. Ascertain all affected individuals | 2. Sometimes difficult due to non-disclosure
Identify the family
37
Why do you calculate the lifetime risk?
For morbidity for various relatives.
38
Not mendelian but appear to cluster in families
Complex Diseases
39
Why are complex disease just that?
You share more genes with your relatives.
40
Predisposition means you have a higher chance of being affected.
True
41
Mild Genetic Predisposition means
Environmental Factors plan a huge role in being affected
42
Share 100% of their genes
Identical Twins
43
Share only 50% of their genes
Dizygotic/Fraternal Twins
44
Both twins carry the diseae
Concordant
45
Only one twin carries the disease
Discordant
46
Rate of concordance in identical twins is an important indicator of
Heritability
47
Exclusive genetic conditions
Concordance is near 100%
48
Exclusive environmental conditions
Never 0% as twins also share environment
49
MZ concordance > DZ Concordance
Multi-factorial conditions
50
Middle ground
Oligogenic inheritance; between monogenic and polygenic inheritance
51
Assumes that condition is defined by relatively small number of loci
Oligogenic inheritance
52
Allos for some loci be more influential than others
Oligogenic inheritance
53
The proportion of phenotypic variation in a population that is attributable to genetic variation among individuals
Heritability
54
Always a fraction of 100%
Heritability
55
Is Heritability the mode of inheritance?
No; MOI is a fixed property of a trait, but not heritability is not.
56
Huntington's Disease caused by excess CAG repeats in Huntington's protein gene
Highly penetrant, mendelian single gene diseases
57
Huntingtons Disease Autosomal Dominant?
Yes
58
Some genes lead to a predisposition to a disease
Reduced penetrance
59
BRCA1 & BRCA2 can lead to a familial breast or ovarian cancer what is its penetrance?
Reduced Penetrance
60
Requires multiple genes and alleles
Complex Disease
61
What is a complex disease caused by multiple pathways?
Type 2 Diabetes
62
Quantifies the correlation between the trait and the marker at family level
Linkage analysis
63
Quantifies the correlation between the trait and the marker at population level
Association study
64
Simple inheritance, single gene with major effect, variant rare in the populations, 600 short tandem repeat markers
Linkage Studies/ Families
65
Test whether single-locus alleles or genotype frequencies are different between 2 groups; genotypes can be compared directly using the sequences of actual genes
Association studies
66
Name 3 acute infectious diseases
1. Cold Virus (Adenovirus) 2. Influenze 3. Mononucleosis
67
MONO is caused by which virus>
Epstein-Barr
68
T/F: | Infection with virus is not equal to having a disease
True
69
What is an example of a latent virus? And what is it?
Herpes simplex virus | Reactivating Infection
70
What are some slow virus infection?
Measles virus SSPE | HIV
71
What is a persistent infection?
Lymphocytic choroiomengitis virus
72
Are T-Cell involved in EBV? WHY?
No; instead immunosupression occurs.
73
T/F A child or a rare adult who was never infected before onset immuno suppression lacks prior immunity placing the patient at high risk for active viral infection and progression to neoplasia
True
74
What is caused by numerous CAG repeats?
Huntington's Disease

Human Genetics Concepts for Healtcare (2 decks)

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