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PAS 753 (Molecular Pathophysiology) > Review Material > Flashcards

Review Material Flashcards

1
Q

Defined as the derangement of function seen in disease

A

pathophysiology

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2
Q

A condition with signs and/or symptoms that is linked to an increased risk of future death or disability

A

disease

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3
Q

study of heredity and its variations

A

genetics

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4
Q

molecular unit of inheritence

A

gene

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5
Q

what are the two purines/

A

adenine, guanine

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6
Q

what are the two pyrimidines

A

thymine and cytosine

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7
Q

Genetic diversity is largely determined by ____.

A

non-coding genome

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8
Q

Disease causing genetic mutations occur mainly in the ___ and sometimes in the non-coding ___. (same word)

A

exome

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9
Q

Where is DNA found?

A

Nucleus and mitochondria

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10
Q

The causes of polyploid involve (2):

A

polyspermia

failure to expel polar body

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11
Q

T/F - polyploidy can result in a live birth

A

FALSE

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12
Q

What are the common presentations of Aneuploidy?

A

2n-1 monosomy

2n+1 trisomy

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13
Q

What abnormality does this represent (and note gender)?

A

Down-syndrome male

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14
Q

What is this disease and gender?

A

Edwards Syndrome

Female

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15
Q

Aneuploidy is associated with non-disjunction in the ___ meiotic division. Causes of this action are said to be either both sporadic and related to ____.

A

first

older oocytes

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16
Q

Monosomy is usually lethal except with this disease

A

Turner’s Syndrome

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17
Q

Autosomal trisomies are usually lethal except for these diseases (3).

A

13 - Patau’s

18 -Edwards

21 -down sydrome

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18
Q

Turner’s Syndrome (45, X) phenotype (4).

List 2/4 special problems

A

Short, webbed neck, shield chest, female.

amenorrhea, infertile, kidney malformations, congetial heart disease, aortic arch dilation and rupture risk

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19
Q

Variable degrees of retardation, increased risk of medical conditions, epicanthal folds, and accelerated aging are common issues in this Trisomy.

A

Downs Syndrome (Trisomy 21)

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20
Q

What trisomy is this defined as…

Severe anomalies, markedly shortened lifespan

10% survive to age 1, 1% to age 10

A

Edwards Syndrome

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21
Q

What trisomy is defined as…

  • Microcephaly, severe mental retardation
  • Cleft lip & palate
  • Ambiguous genetalia
  • Shortened lifespan
A

Patau Syndrome

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22
Q

What does this represent?

Hint: Check out chromosome 45

A

45, XX - Robertsonian Translocation

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23
Q

Case- A healthy male (46, XY) and Robertsonian Female (45, XX) what to have a baby. What are the couples risks of having a baby?

A
  • 1/4 chance of miscarriage
  • 1/4 chance of normal baby
  • 1/4 chance of baby with a balanced translocation
  • 1/4 chance of baby with Down Syndrome
24
Q

Chromosone deletion____has this cat-like cry; what is the name of this syndrome?

A

5p minus

Cri du Chat

25
Q

X, Y Trisomies

  • Pubertal delay, hypogonadism
  • Infertility
A

47, XXY: Klinefelter’s syndrome

26
Q

X, Y Trisomies

usually normal with no special phenotype

A

Triple X Syndrome

27
Q

X, Y Trisomies

Usually normal, taller than expected, learning disabilityes possible but normal IQ

A

no syndrome name, 47 XYY

28
Q
  • Genotype:
  • Excessive triplet repeats (CGG) lead to inactivation of FMR-1 gene
  • Phenotype:
  • Mental retardation
  • Autism
  • Prominent jaw
  • Macro-orchidism
A

Fragile X Syndrome

29
Q

A mutation prevents the production of a sufficient amount of a substance which normally stimulates the transcription of a particular gene

A

Haploinsufficiency

30
Q

A mutation produces a product which becomes a component of a transcription stimulus and renders it non-functional

A

Dominant interference

31
Q

•Disorders caused by _______ mutations are more common in inbred populations

A

recessive

32
Q

Disorders caused by ______ mutations are more common in offspring of older parents

A

Dominant

33
Q

This is an example of what type of mutation/inheritance?

A

Autosomal Dominant

34
Q

This is an example of what type of inheritance?

A

Autosomal Recessive

35
Q

What does this represent?

A

x-linked dominant

36
Q

What does this represent?

A

x linked recessive

37
Q

What is Mendel’s ratio for a dihybrid cross of an Aa/Bb?

A

9:3:3:1 ratio

38
Q

In x-linked recessive disorders, if the mom has the disease will the males in her heritage also have the disease?

A

Yes, 100% yes

39
Q

What does this represent?

A

Mitochondrial disease inheritance

40
Q

What does this represent?

A

x-linked dominant male

*note females will present with the disease in a male to female inheritance

41
Q

Common forms of mitochondrial disease

A

encephalopathy

myopathy

sensory loss

lactic acidosis

42
Q

What does this represent?

A

rare genetic mutation

lacking family history

43
Q

What are multifactorial inheritance examples in characteristics/phenotypes and disease?

A

height, skin color, intelligence, etc

congenital and adult onset

44
Q

The key feature of ___ is that recurrence risk increases with the number of affected individuals in a family.

A

Multifactorial Inheritance of Diseases

45
Q

Congenital Disorders with Multifactorial Inheritance

A
  • Cleft palate
  • Congenital heart defects
  • Neural tube defects
  • Pyloric stenosis

Clubfoot

46
Q

What are the four layers of gene expression control?

A
  • Environmental factors (Jacob-Monod model)
  • Non-coding DNA control
  • Epigenetic control
  • Post-transcription control
47
Q

•Two or more cell lines with different genotypes in one individual

A

mosaicism

48
Q

Individual with two or more cell lines derived from different zygotes

A

chimera

49
Q

•Abnormal embryo development (fusion) of fraternal (non-identical twins)

A

true chimera

50
Q

Medically induced chimeras…

A

bone marrow transplant

tissue transplant

blood transfusion

pregnancy

51
Q

three main sources of mutations

A

spontaneous DNA degratdations

replication eorros

environmental trauma

52
Q

T/F; somatic cell mutations are inheritable

A

FALSE

53
Q

Types of DNA Mutations (4)

A
  • Silent
  • Missense
  • Nonsense
  • Frameshift
54
Q

3 Mitigating Factors for Mutations

A
  • Genetic code redundancy
  • Protein structure redundancy
  • DNA repair mechanisms
55
Q

•>30 genes involved in repair process

A

•Tumor suppressor genes

56
Q
A

PAS 753 (Molecular Pathophysiology) (17 decks)

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