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Genetics: Unit 2 Foundations > Lecture 1 > Flashcards

Lecture 1 Flashcards

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1
Q

How many base pairs in human DNA

A

3.12 billion

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2
Q

How many genes in human genome

A

25000

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3
Q

What percent of DNA is the same between people

A

99.5%

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4
Q

Do all cells in the body have the same DNA

A

Yes, but different genes are expressed in different cells

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5
Q

How is variation in the human genome generated

A

mutations and SNPs

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6
Q

SNP

A

single nucleotide polymorphism
-change in a single base pair
-can result in non change or a big change

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7
Q

Hereditary

A

come from parents, familial

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8
Q

congenital

A

present from birth

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9
Q

are all genetic disorders congenital?

A

No, ex. Huntington’s Disease

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10
Q

are all congenital diseases genetic?

A

no, ex. HIV

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11
Q

3 classifications of human genetic disorders

A
  1. Disorders related to mutations in single genes (Mendelian disorders)
  2. Complex Multigenic Disorders
  3. Chromosomal disorders
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12
Q

Disorders related to mutations in single genes

A

Mendelian disorders
Result from mutations in single gene resulting in large effects
Pretty rate

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13
Q

Complex Multigenic Disorders

A

More common
Interaction between a number of genes

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14
Q

Genetic heterogeneity

A

Mutations in several locations have impact on same trait/disorder

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15
Q

Chromosomal disorders

A

Structural (insertions, deletions) or numerical changes (i.e. less chromosomes) in autosome or sex chromosomes
Not very common

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16
Q

3 transmission patters for Mendelian disorders

A
  1. Autosomal dominant disorders
  2. Autosomal recessive disorders
  3. X-linked disorders
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17
Q

Autosomal dominant disorders are evident in which state

A

heterozygous state (only one allele needs to have mutation)

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18
Q

Penetrance

A

Probability of a gene or genetic trait being expressed
100% penetrance = every individual with mutation shows phenotype

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19
Q

Expressivity

A

The degree to which a phenotype is expressed by individuals who have a particular genotype (“severity” of phenotype)

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20
Q

Which category of mendelian disorders is the most common

A

Autosomal recessive

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21
Q

Autosomal recessive disorders are evident in which state

A

homozygous (both alleles need to be present)

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22
Q

Penetrance and expressivity in autosomal recessive disorders

A

-Complete penetrance common
-Expressivity more uniform

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23
Q

When is onset for autosomal recessive disoders

A

early in life

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24
Q

All sex-linked disorders are:

A

X-linked

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25
Q

Most X-linked disorders are dominant or recessive?

A

Recessive

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26
Q

Which sex is more affected by X-linked disorders and why

A

Males, they are hemizygous for X-linked genes (only have one copy)

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27
Q

3 mendelian disorders from mutations in structural proteins

A

-Marfan Syndrome
-Ehlers Danlos Syndrome
-Sickle Cell

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28
Q

6 mendelian disorders from mutation in enzymes

A

-lysosomal storage disorder
-tay-sachs disease
-gaucher disease
-Nieman pick disease
-pompe disease
-hemophilia

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29
Q

3 mendelian disorders from mutations in receptor and transport system

A

-familia hypercholesterolemia
-cystic fibrosis
-achondroplasia

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30
Q

Collagen

A

-glue that holds everything together
-abundant in connective tissue

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31
Q

What does collage provide

A

tensile strength (max stress a tissue can sustain)

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32
Q

how is tensile strength generated

A

fibril formation

33
Q

EDS category

A

mutation of structural protein

34
Q

Ehlers Danlos Syndrome cause

A

mutation of collagen V

35
Q

Ehlers danlos syndrome symptoms

A

-joint hypermobility, stretchy skin, arthritis, etc. (broad implications bc collagen is abundant)

36
Q

Vascular EDS

A

-more severe
-can lead to rupture of blood vessels

37
Q

Sickle cell disease category

A

mutation of structural protein

38
Q

sickle cell disease cause

A

mutation in hemoglobin gene (HBB)

39
Q

most common form of sickle cell disease

A

sickle cell anemia (cells rigid and sickle shaped)

40
Q

sickle cell disease vs trait

A

-disease: both alleles affected
-trait: one one allege for abnormal hemoglobin

41
Q

is sickle cell trait harmful

A

generally benign

42
Q

when might sickle cell trait be harmful

A

dehydration, low oxygen levels, high altitude

43
Q

sickle cell trait advantages

A

survival against malaria

44
Q

lysosome mutations category

A

enzymes

45
Q

inclusion cell disease

A

lysosomes do not get enzymes due to defect in manos-6-phosphate group

46
Q

manos-6-phosphate group

A

“address label” for lysosomal proteins

47
Q

lysosomal storage disorders general

A

rare
symptoms include delays, seizures, dementia, blindness, deafness
no cures

48
Q

tay-sachs disease

A

lysosomal storage disease

49
Q

tay-sachs disease cause

A

-mutations in HEXA gene (hexosaminidase A)
-enzyme that degrades gangliosides (food source) in brain cells
-gangliosides accumulate in brain and choke off cells

50
Q

signs of tay-sachs disease

A

-manifest around 6months
-motor and mental deteroration
-2-3 year life expectancy

51
Q

pompe disease category

A

-lysosomal storage disorder
-enzyme class

52
Q

other name for pompe disease

A

glycogen storage disease type II

53
Q

cause of pompe disease

A

enzyme deficiency acid alpha-glucosidase
accumulation of glycogen (instead of cleaved to glucose)
leads to damage of muscle cells and organs

54
Q

onset of pompe disease

A

-infantile onset: cardiomedaly (enlarged heart)
-late onset: does not affect heart, progressive muscle weakness

55
Q

pompe disease treatment

A

-symptom management
-enzyme replacement therapy: myozyme

56
Q

hemophilia disorder category

A

enzyme disorder

57
Q

hemophilia general

A

blood clotting disorder, sex-linked x chromosome

58
Q

2 types of hemophilia

A

A and B

59
Q

hemophilia a

A

clotting factor VIII deficiency

60
Q

hemophilia b

A

factor IX deficiency

61
Q

hemophilia symptoms

A

prolonged bleeding or oozing, sometimes in response to minor trauma or spontaneous

62
Q

hemophilia treatment

A

liver transplant = cure
manage with clotting factor therapy

63
Q

what can clotting factor therapy lead to

A

Abs made to infused clotting factors, need more and more factor injected

64
Q

what is cholesterol

A

waxy, white substance
highly produced in liver
get some from food

65
Q

cholesterol function

A

lipoproteins: cell wall, production of hormones

66
Q

types of cholesterol

A

LDL (bad) and HDL (good)

67
Q

familial hypercholesterolemia category

A

receptors

68
Q

familial hypercholesterolemia cause

A

defect in gene encoding LDL-R (bad) on chromosome 19
-typically negative feedback to slow down cholesterol synthesis, but this causes cells to keep making more and more LDL

69
Q

symptoms of familial hypercholesterolemia

A

deposits of fatty skin (xanthomas) and xanthelasmas (on eyelids)
chest pain and heart disease (cholesterol clogs arteries)

70
Q

what is the most frequent disorder of mendelian inheritance

A

FH

71
Q

heterozygous vs homozygous FH

A

homozygous = 5 to 6 fold increase in blood cholesterol
(less for heterozygous)

72
Q

FH treatment optioonos

A

statins
diet

73
Q

Statins

A

treat FH
-bind to enzyme that produces chol. and blocks it to reduce amount of chol made

74
Q

Fibroblast growth factor receptor (FGFR) mutations category

A

receptor

75
Q

examples of FGFR

A

achondroplasia and thanatophoric displasia

76
Q

achondroplasia

A

mutation that leads to dwarfism
results in abnormal cartilage formation and growth plate problems
causes constitutive activation

77
Q

thanatophoric displasia

A

homozygous, more severe/death

78
Q

FGFR mostly inherited or random

A

random

79
Q

achondroplasia treatment

A

NOT growth hormone
limb lengthening but high complications

Genetics: Unit 2 Foundations (2 decks)

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