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Human Genetics Concepts for Healtcare > Lecture 1 > Flashcards

Lecture 1 Flashcards

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
Q

Does the risk of tumors increase post-transplant?

A

Yes; True

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26
Q

How are normal cells different from latent EBV infected cells?

A

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

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27
Q

Expression leads to B cell lymphoma; expression in fibroblasts leads to tumors in nude mice

A

LMP1

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28
Q

accelerates B Cell Proliferation

A

LMP1

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29
Q

Does LMP1 inhibit apoptosis

A

Yes

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30
Q

Normal Cells infected with certain viruses can be transformed into cancer cells due to expression or activation of

A

Viral Oncogenes

31
Q

Human Diseases are classified by

A

Chromosomal Disorders
Single-gene Disorders (Mendelian)
Polygenic (complex/multifactorial)

32
Q

Single-Gene Disorders are typically found at

33
Q

Multifactorial Diseases are typically found at

A

Adulthood

can also be found at Single-Gene Disorders

34
Q

How to find whether certain disease has a genetic component?

A
  1. Classic Family Study
  2. Twin studies
  3. Adoption studies
35
Q

Classical Family Study

A

Identify the family
Determine the proportion of the relatives affected
Calculate the lifetime risk

36
Q
  1. Ascertain all affected individuals

2. Sometimes difficult due to non-disclosure

A

Identify the family

37
Q

Why do you calculate the lifetime risk?

A

For morbidity for various relatives.

38
Q

Not mendelian but appear to cluster in families

A

Complex Diseases

39
Q

Why are complex disease just that?

A

You share more genes with your relatives.

40
Q

Predisposition means you have a higher chance of being affected.

41
Q

Mild Genetic Predisposition means

A

Environmental Factors plan a huge role in being affected

42
Q

Share 100% of their genes

A

Identical Twins

43
Q

Share only 50% of their genes

A

Dizygotic/Fraternal Twins

44
Q

Both twins carry the diseae

A

Concordant

45
Q

Only one twin carries the disease

A

Discordant

46
Q

Rate of concordance in identical twins is an important indicator of

A

Heritability

47
Q

Exclusive genetic conditions

A

Concordance is near 100%

48
Q

Exclusive environmental conditions

A

Never 0% as twins also share environment

49
Q

MZ concordance > DZ Concordance

A

Multi-factorial conditions

50
Q

Middle ground

A

Oligogenic inheritance; between monogenic and polygenic inheritance

51
Q

Assumes that condition is defined by relatively small number of loci

A

Oligogenic inheritance

52
Q

Allos for some loci be more influential than others

A

Oligogenic inheritance

53
Q

The proportion of phenotypic variation in a population that is attributable to genetic variation among individuals

A

Heritability

54
Q

Always a fraction of 100%

A

Heritability

55
Q

Is Heritability the mode of inheritance?

A

No; MOI is a fixed property of a trait, but not heritability is not.

56
Q

Huntington’s Disease caused by excess CAG repeats in Huntington’s protein gene

A

Highly penetrant, mendelian single gene diseases

57
Q

Huntingtons Disease Autosomal Dominant?

58
Q

Some genes lead to a predisposition to a disease

A

Reduced penetrance

59
Q

BRCA1 & BRCA2 can lead to a familial breast or ovarian cancer what is its penetrance?

A

Reduced Penetrance

60
Q

Requires multiple genes and alleles

A

Complex Disease

61
Q

What is a complex disease caused by multiple pathways?

A

Type 2 Diabetes

62
Q

Quantifies the correlation between the trait and the marker at family level

A

Linkage analysis

63
Q

Quantifies the correlation between the trait and the marker at population level

A

Association study

64
Q

Simple inheritance, single gene with major effect, variant rare in the populations, 600 short tandem repeat markers

A

Linkage Studies/ Families

65
Q

Test whether single-locus alleles or genotype frequencies are different between 2 groups; genotypes can be compared directly using the sequences of actual genes

A

Association studies

66
Q

Name 3 acute infectious diseases

A
  1. Cold Virus (Adenovirus)
  2. Influenze
  3. Mononucleosis
67
Q

MONO is caused by which virus>

A

Epstein-Barr

68
Q

T/F:

Infection with virus is not equal to having a disease

69
Q

What is an example of a latent virus? And what is it?

A

Herpes simplex virus

Reactivating Infection

70
Q

What are some slow virus infection?

A

Measles virus SSPE

HIV

71
Q

What is a persistent infection?

A

Lymphocytic choroiomengitis virus

72
Q

Are T-Cell involved in EBV? WHY?

A

No; instead immunosupression occurs.

73
Q

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

74
Q

What is caused by numerous CAG repeats?

A

Huntington’s Disease

Human Genetics Concepts for Healtcare (2 decks)

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