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MSAP Week 3 > Biochem Week 3 > Flashcards

Biochem Week 3 Flashcards

1
Q

Where does meiosis produce and where does it occur

A

Haploid gametes in spermatozoa in males and ovum in females.

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2
Q

Meiosis: Prophase 1

A

Crossover recombination

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3
Q

Region where crossover occurs in prophase 1

A

Chiasma…Chromosomes associate like tetrodes

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4
Q

Tetrodes align along the midline(equator of the cell)

A

Metaphase 1

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5
Q

Random segregation of homologous chromosomes to opposite poles

A

Anaphase 1

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6
Q

1 copy of chromosomes w/ each 2 sister chromatids

A

Telophase and cytokinesis

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7
Q

Alignment of sister chromatids

A

metaphase ii

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8
Q

Separation of sister chromatids x2

A

anaphase ii

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9
Q

how many chromosomes are left for the haploid gametes

A

23

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10
Q

How does genetic diversity of gametes occur

A

Cross over between homologous chromosomes during prophase 1 and random segregation of homologous chromosomes in anaphase 2

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11
Q

Male gametogenesis results in ____ genetically distinct ____

A

four; spermatozoa

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12
Q

Results in formation of one ovum and ___ polar bodies

A

Oogeneis 3

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13
Q

23 pairs of chromosomes come together and form 46 chromosomes i.e 2n

A

fertilization

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14
Q

M Phases

A

PMAT

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15
Q

G1 phase

A

growth and normal metabolic roles

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16
Q

S phases

A

DNA replication

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17
Q

G2 Phase

A

Growth and preparation for mitosis

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18
Q

Sister chromatids are linked at the

A

centromere

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19
Q

Spindle fibers appear and chromosomes condense

A

Prophase

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20
Q

Spindle fibers attach to chromosomes

A

Prometaphase

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21
Q

Chromosomes align

A

metaphase

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22
Q

centromeres divides and sister chromatids move to opposite poles

A

anaphase

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23
Q

Nuclear membrane reforms and chromosomes decondense and spindle fibers dissipate

A

Telophase

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24
Q

Cytoplasm divides and parent cell becomes 2 daughter cells w/ identical genetic information

A

Cytokinesis

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25
Q

Identify symbols

A
  1. Male
  2. Female
  3. Consanguineous parents(relates
  4. Generations
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26
Q
A
  1. Identical Twins

2. Fraternal Twins

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27
Q

Traits the manifest due to inheritance of a single allele are known as

A

Dominate traits the dominate allele

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28
Q

Incomplete penetrance

A

Concept of absolute the individual has the allele and the either manifest ir or do not…. So they incompletely have allele but depends on gene if it will manifest or not

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29
Q

Variable expressivity

A

Range of possible outcomes some individuals with allele may have more severe manifestations than others. Spectrum

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30
Q

Familial hypercholesterolemia is an example of ____

A

Haploinsufficiency

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31
Q

The situation that occurs when one copy of a gene is inactivated or deleted and the remaining functional copy of the gene is not adequate to produce the needed gene product to preserve normal function.

A

haploinsufficiency… only one allele is active unable to compensate for the other half

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32
Q

Achondroplasia is an example of

A

Gain of function… Dwarfism… FGFR3 single and protein made to ossify

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33
Q

Achondroplasia occurs when

A

FGFR3 singles too early or too much which means the growth plate of long bones start to ossify to early and stop growing.

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34
Q

There will be complete showing of the mutation when the gene is present.

A

Fully Penetrant disorder… Compares to incomplete where there is a chance it may or not occur.

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35
Q

The presence of different variants at a single gene locus that cause the same or similar phenotypic expressions of a disease or condition.

A

allelic heterogeneity

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36
Q

Different genes can cause a similar presentation

A

locus heterogeneity

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37
Q

Huntington’s disease is an example of a

A

Gain of naval function… Increase of GLN AA which can lead to neurodegeneration

38
Q

Huntington’s disease is an example of ____ penetrant

A

Fully penetrant. They will have the disease if they live long enough

39
Q

Huntington’s disease can become unstable because

A

the longer the repeat of CAG the worse the disease can be w/ symptoms and will increase in severity w/ future generations

40
Q

Marfan disease is an example of _____.

A

Dominate negative

41
Q

Only one allele w/ mutation for the effect to occur

A

Dominate negative. Different than haploinsufficeny because it mutation will occur w/ one allele while in haplo the genes can compensate for loss of other

42
Q

Sonic hedgehog syndrom is a type of

A

incomplete penetrance and variable expressivity

involved in the formation of midline

43
Q

Lynch syndrome is an example of ______

A

two hit hypothesis

44
Q

Dominate disease alleles are not typically inherited in homozygous state

A
  1. rare for two individuals to have same dominate disorder

2. are more severe.

45
Q

A person who just inherits one disease allele is a

A

Carrier and we say that functional allele is Haplosuffiicent so the disease does not manifest

46
Q

Some genes are lethal when ______ for recessive alleles

A

Homozygous… the null mutation

47
Q

Tay Sachs is a disease of ____ _____ due to the deficiency of an enzyme

A

Autosomal resesive

48
Q

Deficiency of Phenylalanine hydroxyls enzyme

A

unable to degrade Phenylalanine.. Usually excreted through the urine but w/o enzyme may go to brain and

49
Q

PKU treatment

A

Special diet, formula,

Autosomal recessive gene

50
Q

Cystic fibrosis

A

Autosomal Recessive gene
Ion channel of NACL do not form
If one allele is present then they are a carrier only

51
Q

Alpha-1 Antitrypsin Deficiency

A

Autosomal Recessive

52
Q

Co Dominance ` where both alleles are detected and expressed

A

Sickle cell

53
Q

X or Y which has the least amount of genes

A

Y mostly control formation of male sex

54
Q

IN females X inactivations

A

ensures same dosage of most x-linked genes to no have duplicates

55
Q

X*

A

demarcation for x linked mutant

56
Q

Glucose 6-Phosphate dehydrogenase deficiency is an example

A

X-linked disorder

Hemolytic anemia due to oxidative damage in RBCs

57
Q

Red - green color blindness is the ability ton differentiate between red and green colors

A

X-Linked and is more common in males than females

58
Q

Hemophilia is an example of

A

x-linked chromosomes occurs more in males and females unlikely to inherit

59
Q

CVD

A

Collective term used to describe any disorder of the heart and circulatory system

60
Q

CAD

A

Coronary artery disease

61
Q

Measurable and quantifiable biological parameters which serve as indices for health and physiology

A

Biomarkers

62
Q

Enzymes and proteins which serves as indices of the heart

A

Cardiac enzymes

63
Q

An enzyme used in the past along w/ aminotransferases to dx an acute mi

A

LDH

64
Q

which types of LDL does cardiac muscle contain

A

LDH-1 and LDH-2

65
Q

onset rise of LDH

A

rise about 10hrs s/p onset and peak at 24-48hrs and can remain elevated for 8 days

66
Q

AST enzymes are found in which organs

A

Heart and live

67
Q

heme protein present in heart and skeletal muscles

A

myoglobin

68
Q

CK subunits

A

MM-muscle not indicative if SKM or SKM heart
BB-brain
MB-high precent in heart

69
Q

Troponin 3 subunits

A

TnC TnT and TnI

70
Q

why is TnC not measured for MI

A

no isoform specific to heart

71
Q

which troponin makers are used

A

cTnI and cTnT

72
Q

Fast acting Na+ channels occur in which phase

A

phase 0

73
Q

Slow acting(funny) Na channels occur at which phase

A

Phase 4

Pacemaker myocytes

74
Q

K channel transient outwards occurs in

A

Phase 3

75
Q

K+ channel delayed rectifier occurs

A

phase 3

76
Q

Ca2+ L-Type occurs ar

A

phase 2

77
Q

T-Type Ca2+ occurs at phase

A

4 and are pacemaker

78
Q

Na is high in or out of cell?

A

Out

79
Q

K is high in or out of cell

A

in

80
Q

CA2+ high in or out

A

Out

81
Q

Contractile cardiomyoctes

A

Contraction and relaxation
ventricles of the heart
have increase sarcomeres

82
Q

Pacemaker mycoses

A

generate AP
no sarcomeres has gap junctions
SA nodes, AV nodes and bundle of his

83
Q

Draw the cardiomyocte graph

A
84
Q

Pacemaker action potential graph

A
85
Q

Phase 4

A

K+ leak channels open

86
Q

Phase 0

A

Fast Na channels causing depolarization

87
Q

Phase 1

A

Transient K+ channel open

88
Q

Phase 2

A

L-Type CA2+ brings CA inside to stabilize or platue

89
Q

Phase 3

A

depolarization and channels close delayed K + back into cells

90
Q

Pacemaker AP phase 4

A

Funny Na Channels and slow

91
Q

Phase 0 pacemaker AP

A

l-type ca2+

92
Q

Pacemaker AP phase 3

A

decline and replorization due to delayed K+ channels

MSAP Week 3 (2 decks)

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