midterm 1 Flashcards

1
Q

gestation

A

from when sperm&egg meet to birth
-9 month period

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2
Q

mesenchyme

A

fetal connective tissue where things will develop from

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3
Q

oogenesis

A

the formation of mature oocyte/egg from a small germ cell precursor during the embryonic period

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4
Q

ploidy

A

number

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5
Q

diploid cell

A

double the number of chromosomes found within a mature germ cell
-human cells are diploid with 23 pairs of chromosomes

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6
Q

haploid

A

one set of chromosomes
-formed by meiosis

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7
Q

germ cell

A

either the egg or sperm

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8
Q

somatic

A

the whole body besides reproductive areas
-so a somatic cell would be found throughout the body

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9
Q

germ

A

reproductive parts
-these are haploid

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10
Q

stages of development

A

fertilization (includes zygote, morula and blastocyst), pre-embryonic period, gastrulation, embryonic period and fetal period

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11
Q

fertilization

A

egg and sperm meet
-within ovarian cavity

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12
Q

zygote

A

single celled organism
-within ovarian/fallopian tubes

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13
Q

morula

A

formed after multiplication of zygote occurs
-within fallopian tubes

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14
Q

blastocyst

A

occurs when cells organize into inner and outer cell mass
-implants within uterus

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15
Q

pre-embryonic period

A

after fertilization to around the 2nd week
-main component is gastrulation
-germ layers form during this stage

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16
Q

gastrulation

A

when the germ layers are being developed and mature
-primitive streak is formed
-cell of the epiblast go to the streak
-invagination of these cells occurs and due to the outcome they will either become endoderm, mesoderm or ectoderm
-invagination occurs until the 4th week

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17
Q

3 germ layers

A

ectoderm : organs and tissues with contact to the outside world
mesoderm : organs and tissue internally
endoderm : GI tract

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18
Q

example of what develops from ectoderm

A

CNS, PNS, meninges, lens of eye, sensory epithelium of ear, nose and eyes

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19
Q

example of what develops from mesoderm

A

cartilage and bone, dermis, smooth muscle, blood and lymph nodes, kidneys, gonads and spleen

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20
Q

examples of what develops from the endoderm

A

epithelial lining of the respiratory tract, lymphatic cavity and eustachian tube
-big one is the GI tract

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21
Q

embryonic period

A

3rd to 8th week
-period of organ development
-nervous system development (from neural crest cells)
-cardiovascular system
-other organ systems (such as gut, urinary system and gonads)

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22
Q

fetal period

A

3rd month (9th week) to birth
-maturation of organs and tissues
-fetus looks more human

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23
Q

what do germ cells/layers give rise to

A

all fetal tissues and organs

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24
Q

how does exposure to teratogens affect the fetus in the embryonic period? fetal period?

A

embryonic period - death of could affect system wide/multi-system depending on when exposure occurs
fetal period - may interfere with growth and normal functions such as postnatal behavior

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25
Q

pharyngeal or branchial arches

A

what develops into major features of the ears, face and palate emerge during the embryonic period

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26
Q

what arches develop into all structures relating to the ear

A

1st and 2nd

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27
Q

how do the arches pair

A

there are arches 1-6
-arch 5 disappears
-4 and 6 then fuse together

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28
Q

what separates the arches

A

clefts and pouches
-clefts are external
-pouches are internal

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29
Q

what is a main reason why HL is a part of many disorders?

A

they develop from the 1st and 2nd arch which also develops many features of the face

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30
Q

how does the external auditory canal form

A

1 and 2nd arch cleft
-begins around week 6 with the invagination of the 1st cleft
-ends around week 26 with the recanalization of the connective tissue plug
-recanalization forms the canal BUT continues to mature until 6-7 years of age

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31
Q

how does the tympanic membrane/ear drum form

A

branchial membranes
-outer layer of membrane is ectodermal
-middle layer is mesoderm
-inner layer is endoderm (the lining of the tympanic cavity)

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32
Q

how does the tympanic cavity and eustachian tube form

A

pharyngeal pouches
-begins around week 8 and ends around week 21
-tubotympanic recess of the 1st pouch
-cilia within middle ear clears mucus and pathogens through the tube

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33
Q

how do the ossicles form

A

pharyngeal arches (1st and 2nd)
-starts with tubotympanic recess that are embedded within the mesenchyme
-during 8th month, cavity envelopes the ossicles resulting in a lever system

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34
Q

how do middle ear muscles and bones form

A

develops from pharyngeal arches
-1st arch leads to tensor tympani muscle, malleus and incus
-2nd arch leads to stapedius muscle and stapes

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35
Q

how does the pinna form

A

from size mesenchymal projections that develop from neural crest cells
-projections are called hillocks which are between the 1st and 2nd arches
-arrive during the 5th week and by the 7th week enlarge and fuse to form the pinna

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36
Q

development of the inner ear

A

22 days : otic placode appears and will thicken and invagination will occur
28 days : otic vesicle will separate from surface ectoderm
6th week : saccule forms a tubular in the low pole, which is the cochlea and after 8 week it will have 2 3/4 turns
9th week : mesenchyme surround inner ear labyrinth forms a capsule which becomes the petrous portion of the temporal bone

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37
Q

development of the cochlea

A

begins around the 10th week
-cartilage forms two spaces scale vestibuli and scala tympani)
-epithelial cells of the duct will form two ridges (tectorial membrane being one which houses OHC and IHC)

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38
Q

development of the vestibular system

A

around 6th week the SCC appear as pockets of the utricle portion
-central will give rise to canals
-one end of each dilates to form the crus ampullare
-macule in the utricle and saccule are sensitive to linear motion

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39
Q

difference between somatic and germ cell

A

somatic - throughout the body
germ - egg and sperm (can have new organisms develop from)

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40
Q

prokaryotic cell

A

not human
-no membrane bound nucleus or organelles
-most are bacteria

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41
Q

eukaryotic cells

A

human
-nucleus contains DNA

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42
Q

plasma or cell membrane

A

separates the interior of the cell from the outside
-controls the flow of molecules in and out
-prevents free flow
-bilayer of phospholipid molecules

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43
Q

explain the bilayer phospholipid molecules

A

hydrophobic fatty acid tails : facing inward
hydrophilic head : facing outward

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44
Q

mitochondria

A

battery of the cell and is a energy source that produces most of the ATP
-contains cristae where energy comes from

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45
Q

nucleus

A

largest and most prominent of the organelles
-responsible for growth and reproduction of the cell
-contains DNA

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46
Q

chromatin

A

contains genetic information that is organized in genes that determines the shape, structure and range of functions carried out by the cell

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47
Q

ribosomes

A

small particles that are made of RNA and protein
-found in the ER and free within the cytoplasm
-serves as a site of biological protein synthesis

48
Q

what are the main phases of the cell cycle

A

interphase, mitosis/meiosis, cytokinesis

49
Q

interphase

A

longest phase and is non-division
-at the beginning they are half the size of the parent cell due to just finishing mitosis
-G1 : bulking with doubling in size and RNA and proteins synthesize
-S : duplication of DNA
-G2 : growth

50
Q

checkpoints of interphase

A

after G1 to make sure they are ready for DNA synthesis
after G2 to make sure cell is ready for mitosis

51
Q

mitosis

A

division of the nucleus to replace dead or wounded cells
-prophase : x shape takes form due to coiling
-metaphase : centromere attachment occurs, move to center
-anaphase : centromeres break and they begin to move towards the poles
-telophase : arrive at poles and fibers disappear

52
Q

cytokinesis

A

division of the cytoplasm
-fissure forms and allows for the separation into two cells

53
Q

timeline of the cell cycle

A

interphase → G1 → (G0 → to cycle OR stays) → checkpoint → S → G2 → checkpoint → mitosis → prophase → metaphase → anaphase → telophase → cytokinesis → back to interphase and repeats

54
Q

in what phase of the cell cycle do cochlear hair cells stay in?

A

G0 phase
-this is when a cell goes to the resting state and is either permanent or temporary

55
Q

what is the end result of mitosis

A

2 identical daughter cells
-each with 46 chromosomes (23 pairs)

56
Q

meiosis

A

division of germ cells
-chromosomes go through one stage of replication and two stages of division

57
Q

phases of meiosis

A

meiosis 1 : ends with two cells that have all chromosomes still duplicated (2 copies of the parent DNA)
meiosis 2 : 4 daughter cells that are genetically different from the parent cells, with chromosomes with one copy of parent DNA

58
Q

timeline of meiosis

A

interphase → meiosis 1 → prophase 1 → metaphase 1 → anaphase 1 → telophase 1 → meiosis 2 → prophase 2 → metaphase 2 → anaphase 2 → telophase 2 → cytokinesis

59
Q

what is the end result of meiosis

A

4 non-identical daughter cells

60
Q

differences between mitosis and meiosis

A

mitosis : somatic cells, replacing cells, two identical daughters, one cell division and diploid daughter cells
meiosis : gamete cells, four daughter cells, adds variations, two cell divisions, four haploid cells

61
Q

similarities of mitosis and meiosis

A

-interphase, prophase, metaphase, anaphase and telophase
-cell division
-replication of genetic material
-both begin with a diploid cell
-each new cell has the same number of chromosomes

62
Q

oogenesis

A

formation of female gametes
-during embryonic stage, germ cells differentiate into oogonia then divide by mitosis
-some will continue to go through mitosis
-oocytes then replicate DNA and increases
-primary oocytes remain in prophase and do not mature until puberty
(NOTES FOR MORE DETAIL)

63
Q

end result of oogenesis

A

one mature egg from one primary oocyte

64
Q

spermatogenesis

A

sperm cell production phase
-differentiation of germ cells begins at puberty
-primary spermatocytes enter prophase followed by meiosis 1 and the formation of secondary spermatozoa
-spermatids then undergo spermatogenesis
(NOTES FOR MORE DETAIL)

65
Q

end result of spermatogenesis

A

production of mature spermatozoa

66
Q

gene

A

physical unit of hereditary
-passed on
-made of DNA
-provides instructions to make proteins

67
Q

allele

A

another word for gene
-alternate form for gene

68
Q

nucleotide

A

building blocks for gene’s within a DNA molecule
-sugar, phosphate and a base
-creates a code that can create an amino acid

69
Q

telomere

A

the cap on the end of a chromosome
-protective function for chromosomes

70
Q

chromosome

A

DNA and its proteins are packed into this
-made of coiled DNA
-humans have 23 pairs of chromosomes (46 total)
-each pair has two short arms (p arms) and two long arms (q arms)

71
Q

histone

A

what the DNA wraps around

72
Q

nucleosome

A

when the DNA and histone combine

73
Q

genotype

A

genetic makeup
-genotype determines a protein for function then there is a phenotype

74
Q

phenotype

A

expression of genes
-manifest characteristic

75
Q

karyotype

A

number and structure of the chromosome
-looking at the chromosome sets

76
Q

deoxyribonucleic acid (DNA)

A

genetic code that determines characteristics
-made of nucleotides

77
Q

structure of DNA

A

double helix

78
Q

function of DNA

A

duplicates itself and to control development of the rest of the cell in a specific manner
-proteins carry this genetic code

79
Q

what is DNA made of

A

nucleotide : one deoxyribose sugar, one phosphate group and one nitrogenous base

80
Q

base parings

A

adenince and thymine (A & T)
cytosine and guanine (C & G)

81
Q

DNA linkage

A

nucleotides chain together through covalent bonds to form polynucleotides
-polynucleotides are directional molecules due to have different ends
-one strand is 5’ and the other is the 3’
-the base connect in the middle and there is a sugar phosphate backbone

82
Q

how is DNA different than RNA

A

bases : DNA has the T and RNA has the U
strand : double stranded for DNA and single stranded for RNA
sugar : deoxyribose for DNA and ribose for RNA (DNA missing the oxygen at 2’ and RNA has the sugar at 2’)

83
Q

ribonucleic acid (RNA)

A

nucleic acid made of nucleotides that acts between the DNA and proteins
-vital for coding, regulation and expression of the genes

84
Q

what is RNA made of

A

nucleotides : phosphate group, ribose sugar and a base

85
Q

base pairings of RNA

A

adenine and uracil (A & C)
guanine and cytosine (G & C)

86
Q

classes of RNA and their function

A

messenger RNA, ribosomal RNA and transfer RNA

87
Q

messenger RNA (mRNA)

A

template that polypeptides are synthesized
-connecting link between the gene and amino acid
-in nucleus

88
Q

ribosomal RNA (rRNA)

A

structural component of ribosomes
-performs functions in the ribosome that allow protein synthesis to occur

89
Q

transfer RNA (tRNA)

A

brings amino acids into position along the mRNA template

90
Q

what is a protein?

A

product of genes
-intermediate between genes and proteins
-each gene will code multiple proteins

91
Q

what are amino acids?

A

there are 20 essential amino acids in the body
-made of an amino group, carboxyl group and an R group
-connected by covalent peptide bonds
-determine what protein is called for

92
Q

what is the importance of methionine?

A

this is the start codon (AUG)
-what tells transcription to occur

93
Q

what is transcription?

A

transferring of genetic information from DNA to RNA
-using one strand of DNA to produce a single strand of RNA
-3 phases
-opening up DNA (helicase) → initiation → elongation → termination → pre-mRNA → splicing of introns → mature mRNA

94
Q

initiation

A

RNA polymerase binds to a certain nucleotide sequence and helicase will then unwind the DNA to expose the 3’ strand

95
Q

elongation

A

bases will get encoded and the strand will grow
-RNA polymerase links the RNA nucleotides to form a RNA molecule
-uses the template strand (3’ strand) to form a complementary strand of mRNA to the coding strand

96
Q

termination

A

terminator sequence tells the RNA to release from template strand and mRNA is release and the DNA recoils
-this is marked by a stop
-we get a pre mRNA which needs to take out the introns to become an mRNA

97
Q

end result of transcription

A

a transcript in RNA language from DNA language
-mRNA strand

98
Q

what is translation?

A

going from DNA language to mRNA protein language
-must go to the ribosomes within cytoplasm to become a protein sequence
-uses tRNA as an interpreter

99
Q

tRNA within translation

A

match codon in mRNA with proper amino acids and to recognize the proper codon in mRNA

100
Q

end result of translation

A

amino acid/protein

101
Q

what are codons

A

group of 3 nucleotides that specifies for an amino acid

102
Q

start codons

A

what signals for the beginning of translation to occur
-AUG

103
Q

stop codons

A

what signals to stop the process
-UAA, UAG, UGA

104
Q

difference between transcription and translation

A

-transcription takes it from DNA to mRNA and translation takes it from mrNA to protein
-transcription puts it in a new strand and translation takes that and makes a new language

105
Q

how does DNA get to protein

A

DNA → transcribed → RNA → transcribed → protein → phenotype

106
Q

antibiotics and genetics

A

antibiotics are chemicals produced by microorganism as a defense mechanisms against other microbes
-every step of protein synthesis can be inhibited by one antibiotic or another

107
Q

epigenetics

A

study of how behaviors and environment causes changes that affect how genes work
-affects the phenotype NOT the genotype

108
Q

epigenetics vs. genetics

A

epigenetic changes are reversible and do not change the DNA sequence
-this difference is not genetic

109
Q

mutation

A

a permanent change in a genes biochemical makeup
-translocation : segments of a chromosome are swapped between gene
-duplication : a segment is repeated
-deletion : a segment is missing
-gene duplication and deletion : unequal crossing over

110
Q

point mutation

A

the replacement of a single base nucleotide with another base nucleotide through insertions or deletions
-either in DNA or RNA

111
Q

frame shift mutation

A

same as point mutations due to insertions or deletions of a single or more base pair

112
Q

different types of point mutations

A

transition, transversion, nonsense, silent, missense, conservative and non-conservative

113
Q

homozygous/homologous

A

the same

114
Q

heterozygous/heterologous

A

different

115
Q

syndromic conditions

A

HL/deafness may is only one of the group of medical problems a person has
-at least 2 systems are affected

116
Q

nonsyndromic conditions

A

HL/deafness is the only system that is affected
-1 system affected