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BIO-361: Pathobiology > Exam 1 > Flashcards

Exam 1 Flashcards

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1
Q

What is Genetic Imprinting?

A

When certain genes are differentially “turned off” during either paternal or maternal gametogenesis

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2
Q

What chromosome is involved in both Prader-Willi and Angelman syndrome?

A

Chromosome 15

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3
Q

What syndrome results from the deletion of Chromosome 15 when it occurs in the mother?

A

Angelman Syndrome

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4
Q

What syndrome results from the deletion of Chromosome 15 when it occurs in the father?

A

Prader-Willi Syndrome

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5
Q

What environmental factors are thought to contribute to chromosomal breakage?

A

Drugs (Alcohol, Cocaine, Valprorate, lack of Vitamin A)

Infection (Rubella, Toxoplasma, Varicella)

Radiation Damage (radioactive Iodine)

Maternal Factors (Diabetes, Phenylketonuria)

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6
Q

What is deletion?

A

the loss of a piece of a chromosome

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7
Q

What is Isochromosome Formation?

A

When there is incorrect chromosomal division which leads to the fusion of the long and short arms of the chromosome, leading to the duplication of a single arm, and a loss of the other

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8
Q

What is Ring Formation?

A

The telomere of the chromosome breaks because after replication for cell division, this portion becomes shorter and shorter, aging the chromosome’s stability until it becomes lost - then fusion occurs between the short and long arm portions which creates the ring structure.

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9
Q

What is Translocation?

A

when 2 chromosomes break simultaneously with one another and these broken pieces swap locations

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10
Q

What is Centric/Robertsonian Translocation?

A

When 2 non-homologous chromosomes break and the long arms of the chromosomes fuse into one single chromosome

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11
Q

What is aneuploidy?

A

An abnormal number of chromosomes

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12
Q

What are the two reasons why numeric disorders of the sex chromosomes is “better tolerated” than those involving the autosomes?

A

Involves the inactivation of all but one X chromosome

The Y chromosomes contains very few genes

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13
Q

What is Turner Syndrome?

A

Absence of all or part of a female’s two X chromosomes

Most are spontaneously aborted

Short individuals, with diagnosis mostly occurring during teen years because of poor development

Contain underdeveloped ovaries and has no secondary sex characteristics (infertile)

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14
Q

What is Klinefelter Syndrome?

A

1 or more extra X chromosome

Tall, abnormal body proportions (wide hips, narrow shoulders, long arms/legs)

Lack of facial, body, and pubic hair

Normal Intellect

Cells will have a Barr body

Infertile

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15
Q

What is a Barr body?

A

Inactive X chromosomes in the female somatic cells

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16
Q

A nurse noticed that the newborn baby had low set ears, low set nasal bridge, producing tongue, and wide epicanthal folds (skin folds around eye). What is this disorder and what may the nurse suspect?

A

Down Syndrome

These characteristics are most properly related to some sort of chromosomal defect

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17
Q

Although a majority of chromosomal abnormalities are sporadic, they can on occasion be directly inherited. The genetics basis for the baby’s aberration will be identified by:

A

Karyotyping

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18
Q

What is Nondisjunction?

A

failure of the 2 chromosomes to separate during meiosis

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19
Q

What are the approaches to disease?

A

By body system (cardiovascular, pulmonary, renal…)

By disease etiology (cause) (genetic, biological, chemical agents, physical forces)

By signs and symptoms (what do they look like or perceive?)

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20
Q

What is Etiology?

A

Causes of disease or physiological abnormalities

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21
Q

What is the etiology of Spina Bífida?

A

combination of genetic, nutritional, and environmental risk factors

E.g., family history of neural tube defects and folate (Vitamin B-9) deficiency

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22
Q

What is Pathophysiology?

A

What is the disease and how does it effect the body

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23
Q

What are Signs of disease?

A

Factors that are objective and measurable

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24
Q

What are Symptoms of disease?

A

Factors tat are subjective, and can be different for all individuals

E.g., pain, nausea

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25
Q

What is a Diagnosis?

A

Identification of disease (DX)

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26
Q

List some common medical acronyms

A

DX diagnosis
BP blood pressure
RR respiratory rate
T temperature
CBC complete blood count
S/S signs and symptoms
SOB shortness of breath
TX treatment

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27
Q

How many pairs of chromosomes are there?

A

23 pairs

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28
Q

Where are chromosomes located in the nucleus?

A

Around the outer edge of the nucleus

(Not bundled within the middle as once thought)

29
Q

What is chromatin?

A

A complex of DNA and protein that eukaryotic genes are contained

30
Q

What are his tones?

A

The protein of chromatin

Are octomers

31
Q

What is Histone Methyltransferases?

A

When methyl groups are added to the lysine residues on H3 and H4 histones tails and repress transcription by condensing chromosome structure

32
Q

What is Histone Demethylases?

A

When methyl groups are removed

33
Q

What does Histone Acetylation do?

A

Neutralizes the basic charge of lysine and allows DNA to uncoil from histones to activate transcription and turn genes on

Acetyltransferases - acetyl groups are added
Deacetylases - acetyl group are removed

34
Q

What is Deacetylation?

A

Removing acetyl residues from lysine which stabilizes the nucleosomes and represses transcription, turning genes off

35
Q

How many genes are in the X and Y chromosomes?

A

X = 900-1400 genes
Y = max of 200

36
Q

What is Dosage Compensation?

A

Equalization of genetic information in XX female genotype - one member of the XX pair is randomly inactivated in female cells

37
Q

What is a common example of X chromosome inactivation?

A

Orange and black calico cats

Fur color on the X chromosome

38
Q

What does DNA Methylation do?

A

blocks transcription factors from binding to enhancer sites; “turn off”

39
Q

What are Exons and Introns?

A

Exons are regions of the DNA sequence that code for a protein

Introns are regions of DNA between exons that do not code for a protein

40
Q

What are some diseases from faulty transcription?

A

Developmental disorders
Cancer (e.g., leukemia)
Diabetes
Alzheimer’s (misfolded proteins accumulate in nerves and brain, killing the nerves)

41
Q

What are some signs of Prader-Willi?

A

Intellectually deficient
Constant hunger @ 2 years of age (leads to obesity and Type 2 diabetes) - hard to control blood sugar levels
Short stature
Small hands and feet

42
Q

What are some signs of Angelman Syndrome?

A

Intellectual deficient
Poor control of muscle movement
Smile and laugh frequently
Happy and excitable personalities
Poor sleep
Lack of speech

43
Q

What is the cause of Fragile X Syndrome and what are some symptoms?

A

Mutation FMR1 gene regulates neuronal synapse (nerve-nerve connections) - impacting every nerve in the extremities and brain

Intellectual impairment
Large face and ears
Hyperextendable joints
Mitral valve prolapse - which leads to damage to heart

44
Q

What is Inversion?

A

2 breaks in a single chromosome

Can be pericentric (breaks on opposite sides of centromere) or paracentric (same side of centromere)

45
Q

What is a Karyotype?

A

Allows visualization of chromosome structure - gives idea “where to look” for these genetic defects

46
Q

What are Congenital Disorders?

A

Abnormal body structure, function, or metabolism present at birth

47
Q

What are the 2 periods of vulnerability in fetal development?

A

Development of placenta

During fetal organ development

48
Q

How does alcohol lead to Fetal Alcohol Syndrome?

A

alcohol is lipid soluble and passes freely across the placenta to the embryo fetus - the concentration is the same in the fetus as the mother

Leads to small head (microcephalic), neurological abnormalities, behavior dysfunction, and developmental delays

49
Q

What are the three proliferative capacity of tissues?

A

Labile- continue to divide and replicate throughout life, replacing cells that are continually being destroyed (e.g., skins cells)

Stable - normally stop dividing when growth ceases (e.g., kidney, lung, liver cells)

Permanent - cannot undergo mitotic division (e.g., neurons, cardiac muscle cells)

50
Q

What are Histones role in gene expression?

A

Modifications regulate what genes can be transcribed

Mutations may completely alter what is transcribed in a cell

51
Q

How many proteins make up one histone?

A

4

52
Q

What is the role of transcription factors?

A

These factors are proteins that are involved in the process of transcribing DNA into RNA

With methylation, these factors are unable to bind to DNA

53
Q

What is the role of DNA Methylation in gene expression?

A

Blocks transcription factors from binding to enhancer sites - “turn off”

54
Q

What is Multifactorial Inheritance?

A

No clear cut pattern of inheritance; multiple genes; environmental factors; cannot be predicted

55
Q

Explain Toxoplasmosis

A

Can be acquired through raw/undercooked meat and cat feces which have this parasite.

This parasite is easily able to cross placenta and affect the fetus - heading to the brain

Leads to premature birth, eye damage, and fluid build up in the brain

56
Q

What are the steps of wound healing?

A
  1. Inflammatory Phase: 0-24 hrs
    Neutrophils are first recruited to help stop bleeding and prevent infection
    Macrophages remove ell debris and produce growth factors for repair
  2. Proliferative Phase:
    Fibroblast rebuilds wounds, divides to build a network
    Growth of new blood vessels (to replaced those lost) and collagen is used to structure the wound

3.Would Contraction and Remodeling: 3 wks - 6 months
Scar remodeling
Restoration of tissue architecture
Decreased blood vessels (removes extra that are unnecessary)

57
Q

What may impair wound healing?

A

Age - cells are younger and more responsive in younger individuals

Nutrition/Malnutrition - deficiencies limit ability to repair (proteins, fats, carbs, Vit A, C, K, Zinc)

Impaired blood flow and oxygen delivery

Impaired inflammatory and immune responses

Infection

Wound Seperation

Foreign bodies

Overproduction of collagen

58
Q

What do collagen and elastin do in the extra cellular matrix?

A

Act as fibrous structural proteins

Collagen - structure
Elastin - ability to stretch and relax

59
Q

What is Atrophy?

A

Decrease in cell size

60
Q

What is Hypertrophy?

A

Increase in cell size

61
Q

What is Hyperplasia?

A

Increase in the number of cells through mitotic division

62
Q

What is Metaplasia?

A

Replacement of adult cells

63
Q

How do cells change to accommodate changes in the internal environment?

A

Size - atrophy (e.g. muscle not working), hypertrophy (e.g. cardiac cells, muscle cells getting bigger)

Number - cells are dividing more

Form - metaplasia (e.g. Barrett’s Esophagus)

64
Q

Which cellular growth change best describes the cellular adaption seen in chronic cigarette smokers?

A

Metaplasia - cells begin to change and adapt to stuffing off from the cigarette smoke

65
Q

What are the types of cellular injury?

A

Mechanical
Chemical
Radiation

66
Q

What is a mechanical cell injury?

A

Impact with another object (e.g. car crash, falling off bike)
Extremes of temperature
Electrical forces

67
Q

What is radiation cell injury (and the three types)?

A

Ionizing- quickest, focused and narrow (e.g. chemo)
UV - Not deep, skin and retina damage (e.g. sunburn)
Nonionizing - slow waves, infrared light (e.g. ultrasound)

68
Q

What is the difference between Primary and Secondary Healing?

A

Primary - small, clean wound (e.g. paper cut)
Secondary - great tissue loss with contamination (e.g. scraped leg, stick impaled into leg)

BIO-361: Pathobiology (4 decks)

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