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Exam 2 concepts Flashcards

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Biology 101 flashcards
1
Q

what are some of the factors that can influence birth defects in childhood?

A
  1. multifactorial
  2. unknown
  3. teratogens
  4. monogenic
  5. chromosomal
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2
Q

what are the classification classes of birth defects

A
  1. malformation
  2. disruption
  3. deformation
  4. dysplasia
  5. sequence
  6. syndrome
  7. association
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3
Q

what are some traits associated with cardiac defects

A
  • major cause of death in first year of life
  • common anomaly is ventricular septal defects
  • incidence is 5-8 per 1000 births
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4
Q

what are some of the developmental milestones as it pertains to neural tubes?

A

18th day-neural plate developmental
24th day-cranial closure
26th day-caudal closure

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5
Q

what are the different spina bifida degrees?

A
  1. spina bifida occulta
  2. lipomeningocele
  3. meningocele
  4. myelomeningocele
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6
Q

in the last decade, what has folic acid/vitamin b0 been used for?

A

for prevention of neural tube defects (NTD), coronary artery disease (CAD), stroke and colorectal and cervical cancer

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7
Q

polymorphisms in folate metabolism enzyme encoding genes can result in what?

A

risk factors for neural tube defects. the enzymes are responsible for recycling of folate

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8
Q

what are the fetus malformations that are results of using thalidomide?

A

amelia, phocomelia, hypoplasia and absence of some bones

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9
Q

what are the immunomodulatory properties of thalidomide therapeutic properties?

A 
Inhibition and stimulation of cytokines
Co-stimulation of primary human T cells
Modification of surface cell adhesion molecules
Induction of NK cells
Treats leprosy
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10
Q

what are the non immunomodulatory properties of thalidomide therapeutic properties?

A

Anti-angiogenic activity
Anti-proliferative and pro-apoptotic activity
Treats cancer

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11
Q

what is the potter sequence?

A

urethral agenesis–> oligohydramnio–> fetal compression in utero, growth deficiency, multiple malformations, altered facies, limb positioning defects

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12
Q

what are some other health problems that down syndrome could increase the chance of?

A
  • heart defects
  • thyroid disease
  • nearsightedness
  • farsightedness
  • alzheimers
  • leukemia
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13
Q

what are some of the personality problems with Fetal alcohol syndrome

A

Difficulty with time
Being where they should be on time
Problems managing money
Difficulty transferring learning to other situations
Difficulty determining what to do in a given situation

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14
Q

what does VATER stand for?

A

V - Vertebrae problems,
For example, abnormally formed vertebrae, and extra ribs.
A - Anal Anomalies and sometimes rectum problems.
For example, there is no opening where the anus should be
T - Trachea problems.
For example, there is a connection between the trachea and esophagus.
E - Esophagus problems.
For example, part of the esophagus is missing.
R - Radius (lower arm bone) problems
For example, the larger lower arm bone is abnormally formed

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15
Q

what factors influence teratogenicity?

A 
Dose
Route
Frequency of exposure
Duration of exposure
Concurrent exposures
Concurrent illness
Genetic susceptibility
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16
Q

what are the teratogenesis mechanisms

A
  1. Mutation
  2. Chromosomal aberrations
  3. Mitotic interference
  4. Nucleic acid metabolism alteration
  5. Energy metabolism interference
    - substrate deficiency
    - pathway inhibition
  6. Cell membrane alterations
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17
Q

what are the developmental gene families?

A 
homeobox (hox) gene family
Paired box (pax) gene family
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18
Q

what are the developmental gene pathways?

A

Fibroblast growth factor and receptors
Sonic hedgehog pathway
Neural crest cell migration network

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19
Q

what are the explanations for an important gene family produces only 3 rare human syndromes?

A

One HOX gene may be able to compensate for deficiency in another (redundancy)

HOX genes are so important that when mutated inevitably produces early pregnancy loss (no viable babies born)

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20
Q

what is the treatment for aniridia?

A

colored eye lenses in order to reduce the light inlet

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21
Q

what are the cell signals used to organize itself into embryonic tissues

A

juxtracine signal and paracrine factors

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22
Q

what are the examples of signals used for sonic hedgehog pathway?

A

to differentiate, die, and migrate

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23
Q

what are the two ways shh does its signals?

A 
-signals 
to adjacent cells
when tethered 
to the plasma
membrane
-signals 
in long range 
as freely 
diffusible molecule
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24
Q

what are the symptom ranges of holoprosencephaly?

A 
mild (anosmia, or a single central incisor) 
to moderate (cleft lip or palate) 
to severe (cyclopia)
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25
Q

HH signaling is linked to an increasing number of what?

A

cancers, can be cancers with mutations in the HH pathway or cancers with autocrine requirements for HH ligand

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26
Q

what are the 4 types of waardenburg syndrome?

A

type 1: hearing loss and white forelock
type 2: very similar to type 1
type 3: severe form with limb abnormalities
type 4: waardenburg and hirschprung

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27
Q

why does loss of melanocytes lead to deafness?

A

melanocytes produce endolymph in the stria vascularis. stria vascularis uses that endolymph for the scala media where the organ of corti is. Organ of corti contain auditory sensory cells

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28
Q

what are the mutations associated with male pseudohermaphroditism?

A

SF1 mutation, SOX9 mutation, and WT1 mutation

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29
Q

Any factor
raising testosteron level
will serve as SRY surrogate
and will lead to what?

A

masculinization
of female genitalia
(Female pseudohermaphroditism)

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30
Q

what are the factors raising testosterone levels in females?

A

A) Maternal androgen ingestion (exogenous)

B) 21-hydroxylase deficiency
enzyme deficiency

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31
Q

what phase does the genome work to express genes

A

g1 and g2

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32
Q

what is the ploidy for sperm and eggs vs somatic cells

A

sperm and eggs are haploid and somatic cells are diploid

33
Q

what can be the result of changes in the chromosome number and structure

A 
birth defects, 
mental retardation, 
infertility, 
miscarriage
cancer
34
Q

what does chromosome morphology depend on

A

the position of the centromere

35
Q

what are the methods of chromosome analysis

A
  1. chromosomal banding
  2. FISH (fluorescent in situ hybridization)
  3. CHG (comparative genome hybridization)
36
Q

how does FISH work

A

fluorescent labeled DNA probe anneals to DNA within the metaphase chromosomes by its complimentarity . Then can confirm if a baby has a certain disease

37
Q

what is SKY useful in?

A

in identifying complex karyotypes especially in cancer

38
Q

individual chromosomes territories are what

A

tissue specific

39
Q

the relative positions of chromosomes in an interphase nucleus depend on what

A

the proportion of genes and the A+T content

40
Q

how does CGH work?

A
  1. mix patients dna with normal dna
  2. put the mixed solution on a metaphase spread and and with the rest of solution array pieces of genomic dna
  3. for the spread and array red sections mean gain so duplication. Green means loss which is deletion
41
Q

subtelomeric chromosome rearrangements are common in whom

A

kids with idiopathic mental retardation

42
Q

when does crossing over occur

A

during prophase I of meiosis (pachytene)
in a process called synapsis
within synaptonemal complexes

43
Q

what is dicytyotene

A

when Ova arrested for 10-50 years

in Meiotic prophase I (at birth)

44
Q

what does long waiting in dictyotene do

A

leads to increased probability of non disjunction of chromosomes

45
Q

The relative frequency
of new autosomal dominant mutations
in children increases logarithmically
with what?

A

paternal age

46
Q

what is 2 paternal and 1 maternal called

A

triploid, large placenta, very small fetus

47
Q

what is the result of 2 maternal and 1 paternal

A

triploid, some live through 2nd trimester, very rarely to term intrauterine growth retardation

48
Q

what does monosomy lead to

A

miscarriages

49
Q

what does trisomy lead to

A 
patau syndrome (+13)
edwards syndrome (+18)
down syndrome (+21)
and miscarriages
50
Q

what are structural abnormalities of chromosomes caused by

A

translocations
deletions and insertions
inversions

51
Q

what does the clinical outcome of structural abnormalities depend on

A

the net gain of loss of chromosome material

52
Q

what is the net effect of robertsonian translocations

A

no changes
in gene expression on q-arms;

Loss of rRNA expression,
Cell will not feel the loss phenotypically
due to rRNA gene redundancy

53
Q

what are some other traits of robertsonian translocation

A
  • example of balanced abnormality
  • abnormal karyotype
  • hybrid mini chromosome
54
Q

balanced abnormalities may lead to what

A

unbalanced abnormality in the offspring

55
Q

As with all chromosome abnormalities, chromosomal inversions and rings problems depends on what

A

what is found, size of the ring, how much material was lost, which chromosomes are involved

56
Q

what kinds of chromosomes are always lost in mitosis

A

acentric and dicentric

57
Q

what are the two kinds of chromosomal abnormalities

A
  1. balanced, no net gain or loss of chromosomal material. Translocation and inversions.
  2. unbalanced, net gains and loss. deletions and insertions
58
Q

phenotypes are not produced in balanced chromosomal abnormalities except in what cases?

A
  • chromosomal break disrupts important gene

- break separate gene from regulatory element

59
Q

robertsonian translocations are always what

A

unbalanced, as small acrocentric fragment is lost

60
Q

what happens if a chromosomal translocation happens in a somatic cell?

A

cancer

61
Q

what enlarges a telomere

A

telomerase, a reverse transcriptase, extends the lagging dna strand

62
Q

what are the reasons for tumor development being a complex process?

A

A multitude of events (greater than 4)
Each event has low probability, requires years for full phenotype to develop
Mut events happen in succession of each other
Because of that
cancer is typically a disease of old age

63
Q

what are the steps to genome change

A
  • point mutations
  • chromosomal rearrangements
  • changes in methylation pattern
  • regulatory changes in gene expression
64
Q

what are the gene involved in tumor development

A
  • tumor suppressors
  • oncogenes
  • lots of genes that have marginal influence on tumor growth
  • lots of genes that change their status as consequence of malignization
65
Q

are oncogenes or tumor supressors dominantly inherited?

A

oncogenes are dominantly inherited (one defective allele can predispose the cell to tumor formation) and tumor suppressors are recessive(Mutation in one allele predispose human to cancer, but do not cause it)

66
Q

how do tumor suppressor genes act in recessive fashion?

A

If one copy is gone/mutated, second normal allele will function.
If both copies are gone/mutated, cancer can progress (two hit hypothesis).
Replace a single normal copy and cells return to normal (cell fusion assay).

67
Q

what are the ways oncogenes influence status changing?

A
  • activating point mutations
  • translocating under strong promoter
  • amplificiation
  • overexpression
68
Q

what are the ways tumor suppressors influence status changing

A
  • inactivating point mutations
  • promoter methylation
  • gross chromosomal deletion
  • under expression
69
Q

what are the two alternative statements describing tumors?

A
  • tumors are clonal

- tumor is a mix of different cell populations (tumors are heterogenous)

70
Q

what are some traits towards the claim that darwinian selection is in tumors

A

-tumor can quickly react to changes in environment (like to treatment of patient with drug or radiation)
-Tumor reacts via expanding of pre-existing population of resistant cells
or by rapid divisions with producing of multiple clones. 99% of them non viable,
but 1% is enough to win a game

71
Q

what are the two main ideas about metastasis?

A
  1. needs many steps and any step is rate limiting

2. cancer cells should profoundly changes their behavior to get an ability to spread through the organism

72
Q

what is the sequence of metastatic events

A 
Genesis of new vasculature (angiogenesis)
Detachment of tumor cell from other cells
Invasation (entry to vessel)
Evasion of natural host defences
Arrest in small vessels
Attachment to vessel walls 
Extravasation
Establishment of  a new growing colony
73
Q

what is step 1 of metastasis?

A

Neovascularisation (neoangiogenesis), Every microtumors
>1-2 mm in size need to
grow new vessels
to escape from hypoxia

74
Q

what does the tumor secrete during step 1 of neovascularization

A

pro-angiogenic factors as VEGF, FGFs, IL-8, prostaglandins

75
Q

what is step 2 of metastasis

A

detachment of tumor cells from neighboring cells. Also playing role
in the primary tumor invasiveness.

76
Q

what is step 3 of metastasis

A

entry of tumor cells to vessel,

77
Q

what is step 4 of metastasis

A 
evasion of natural host defenses, Because cancer cells 
are altered-self cells, 
one would expect 
cancerous cells 
to elicit a 
cell-mediated response
78
Q

what are steps 4-7 of metastasis

A

Arrest in small vesselsand attachment to vessel walls. Extravasation.Establishment of a new growing colony

genetics concepts (13 decks)

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