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MtC Block 3 > MtC Block 3 > Flashcards

MtC Block 3 Flashcards

1
Q

Progeria

A

Premature aging, associated with shortened telomeres

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2
Q

Maternal non-disjunction causes _________.

A

Down-Syndrome - Trisomy 21

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3
Q

Mosaic down syndrome can be caused by

A

Mitotic non-disjunction - affections phenotype

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4
Q

Trisomy 13 - Patau syndrome

A

Heart defects, midline defects, malfomred forbrain - cyclops - longterm survival rare

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5
Q

Trisomy 18 - Edwards syndrome

A

Severe heart defects, profound developmental delay, overlapping digits - differnet CNS wiring - most lost before term

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6
Q

Telomerase is active in

A

Germ and cancer cells

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7
Q

Nearly all microscopically visible autosomal aneuploidy is _________

A

Deliterious

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8
Q

Turners Syndrome (XO)

A

Short, streak ovaries, heart defects, normal intellect, infertile, 99% lost before term

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9
Q

Turner’s syndrome is often due to

A

Loss of male Y

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10
Q

Klinefelter’s XXY

A

Feminized, low androgen, small testes, normal IQ, - difficulty w/ relationships, infertile - sperm don’t mature

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11
Q

XIST

A

All females have one fuctioning X - dosage comp - a few escape

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12
Q

47XYY

A

Tall, fertile, sub-average IQ, impulsive, low confidence/anxiety - CNS hardwiring change

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13
Q

Male determining locus - SRY

A

One gene on Y that determines maleness - causes problems with two - 47XYY

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14
Q

3 types of prenatal genetic testing

A

Amniocentesis > 16 weeks
Chorionic villus > 9 weeks - more invasive
Non-invasive prenatal testing - 5-15% fetal DNA recoverd from blood sample from mother

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15
Q

Most structural rearrangements occur from

A

Double-standed breaks

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16
Q

Results of deleterious mutations of autosomal chromosomes (2)

A
  1. Haplo-insufficiency
  2. Expression of recessive gene
    Ex. cri-du-chat
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17
Q

Repairs of DS breaks can result in (3)

A
  1. Ring
  2. Inversion
  3. Translocation between non-homologous chromosomes
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18
Q

Pedigree analysis applies most to

A

Monogenic disorders

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19
Q

Characteristics of monogenic (Mendelian) disorders (3)

A
  1. Determined by a single mutant gene - very speicific point mutation in coding region usually
  2. Rare
  3. Show specific patterns of inheritance
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20
Q

Characteristics of complex disorders (4)

A
  1. Polygeneic inheritance - more than one gene locus
  2. Multifactorial inheritance - combo of genetic and environmental factors
  3. Major group of human disease
  4. No specific patterns of inhericance - familial clustering
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21
Q

Principle of Segregation

A

Alleles segregate so that each gamete is equally likely to contain either member of the pair

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22
Q

Principle of Independent Assortment

A

During gamete formation, segregating pairs of alleles assort independently of eachother

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23
Q

Pedigree

A

Graphic representation of family’s interrelationhsips and health problems - focused

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24
Q

Three other important things to gather for a pedigree

A
  1. Ethnicity
  2. Religious heritage
  3. Country of origin
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25
Q

Two reasons to use a pedigree

A
  1. Quantify risk of developing disease for family members - family planning
  2. Analysis to obtain mode of inheritance
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26
Q

In a pedigree a male is represented by a _______ and a female by a __________

A
  1. Square

2. Circle

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27
Q

An autosomal dominant disase will have what distinguishing characteristics on a pedigree (4)

A
  1. Each affected individual has an affected parent - does not skip
  2. Normal offspring will have normal offspring
  3. Males and females affected equally
  4. Each generation tends to have an affected individual
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28
Q

An autosomal recessive disease will have what distinguishing characteristics on a pedigree (4)

A
  1. Can skip generations - carriers
  2. Males and females affected equally
  3. Normal parents can only have an affected offspring if both are carriers
  4. The less frequent the allele in the population - the more likely the individuals are a product of a cosanguineous marriage
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29
Q

An X-linked dominant disease will have what distinguishing characteristics on a pedigree (3)

A
  1. Trait is never passed from father to son
  2. All daughers of an affected male and normal female are affected
  3. Females are more likely to be affected than males
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30
Q

An X-liniked recessive disease will have what distinguishing characteristics on a pedigree (3)

A
  1. Never passed from father to son
  2. Passed from affected grandfather to carrier daughter to all of her sons??
  3. Males more likely to be affected than females
    Ex. Colorblindness
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31
Q

A Y-linked disease will have what distinguishing characteristics on a pedigree (2)

A
  1. Always in males

2. Passed from father to son

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32
Q

A mitochondrial disorder will have what distinguishing characteristics on a pedigree

A
  1. If the male is affected none of the children get it

2. If the female is affected they all do

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33
Q

What two things must you know to use a Punnett square

A
  1. Mode of inheritance

2. Parental phenotypes

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34
Q

What are two problems with obtaining an accurate pedigree analysis

A
  1. Variable expressivity - varying severity - trouble assigning disease to family members
  2. Incomplete penetrance - person with genotype does not express diesase
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35
Q

Genetic anticipation

A

Members exhibit progressivley earlier age of onset and increased severity w/ each generation
-Seen in disorders involving multiple repeats

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36
Q

Mosaicism

A

Mutation originated as a somatic mutation during embryogenesis of one of the parents

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37
Q

Considerations for mosaicism in a pedigree

A
  1. Risk to future offspring could be the same as from an affected parent
  2. Shows features of both recessive and dominant
  3. Consider a parent mosaic for a dominant allele before deciding its recessive
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38
Q

De novo mutation

A

Spontaneously originated in parental gamete - presents as recessive - may show dominnat inheritance in next generation

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39
Q

Genetic (locus) heterogeneity

A

Existance of multiple genes when mutated cause same phenotype

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40
Q

Lethality (2)

A
  1. Recessive lethal - embryonic lethal

2. X-linked dominant disorders - male lethality

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41
Q

Linkage analysis

A

Statistical method used to ID position of human disease genes relative to known genetic markers

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42
Q

Syntenic genes

A

Two genes on the same chromosome - close enough that they don’t segregate independently

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43
Q

Lod Score Method

A
  1. Log (Probablity assuming linked)/(Probability assuming not linked) >3 indicates linkage > -2 indicates not linked
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44
Q

________________ works better in conjucntion with linkage analysis.

A

Whole genome appraoch. Better if you have genomes from multiple family members

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45
Q

Personalized medicine can (3)

A
  1. Help with genetic predisposition, early diagnosis
  2. Pharmacogenetics - drug dosages
  3. Predict outcomes
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46
Q

On average human DNA differs between individuals by ____?

A

.1% - majority are single base changes

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47
Q

SNP

A

Single nucleotide polymorphsim

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48
Q

_____ is the most common variation in human genome

A

SNP

  • inversino/deletion
  • block
  • copy number - identical sequences repeated on some chromosomes, not others
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49
Q

Genetic markers

A

Identified physical location on a chromosome whose inhericance can be monitored

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50
Q

A genetic marker can distinguish between ____________ and determine which ____________.

A

2 copies of alleles; allele is inherited from parent to child

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51
Q

A __________ can ID regions that harbor disease causing mutations

A

genetic marker

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52
Q

Restriction Fragment Length Polymorphism

A

Cut the DNA with a restriction enzyme - Southern Blot - look at size of chunks

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53
Q

Short sequence length polymorphism

A

Short repeats of 2, 3, or 4 nucleotides - randomly disbursed thorughout genome - PCR - Southern Blot - See size variations

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54
Q

SNPs occur on average _______ and are _________.

A

1/1000bp; bialleleic

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55
Q

Most ____ are distribued across entire gneome and have no discernable function

A

SNPs

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56
Q

Types of SNPs (4)

A
  1. Coding -synonymous - no change in aa sequence
  2. Coding - non-synonymous - change aa sequence
  3. Promoter - alter gene expression
  4. Splice site SNP - alter RNA processing
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57
Q

Copy number variants

A

Relatively large duplications/deletions of specific regions 50-1Mbp

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58
Q

On average there are ____ CNV/individual

A

12

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59
Q

High throughput platforms allow you to…

A

…analyze large numbers of SNPs (300k - 1M)

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60
Q

Reverse genetics

A

ID a gene by positional cloning based on its molecular properties (Phenotype - gene)

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61
Q

Positional cloning

A

Finding a gnene of unkown function by mapping them relative to a gene/marker you can clone and walking down chromosome

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62
Q

Single gene disorder

A

Mutation of single gene is necessary and sufficient to cause the diseae - severity due to modifier gene

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63
Q

Triplet expansion disease

A

Threshold of repeats before disease occurs

HD, Fragile X syndrome, Kennedy syndrome, Myotonic dystrophy

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64
Q

Cystic fibrosis

A

Deterioration of lungs, Autosomal recessive, IDed gene thru linkage analysis - RFLP to ch7

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65
Q

Cystic fibrosis transmembrane conductance regulator

A

Codes chloride channel responsible for salt balance - salty cellular secretions promotes bacteria build up

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66
Q

Symptoms of Huntington’s Disease

A

Degenerative disorder of the brain with progressive dementia and uncontrolled movement
-no symptoms til puberty or middle age

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67
Q

Pedigree of Huntintons disease

A

Autosomal dominant w/ modifier genes,
genomic imprinting & anticipation
-when inherited from the father earlier onset and greater repeat expansion

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68
Q

Hungtintin gene

A

180 kb, 67 exons, protein s 3150aa
Repeats of CAG in coding region (microsatellite in coding region)
9-36 normal and 37-100 in diseased - higher repeats, the earlier age of onset

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69
Q

Epigenetics

A

Heritable changes affecting gene expression that do no result from alterations in DNA sequence

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70
Q

Genomic Imprinting

A

Epigenetic phenomenon in which the sex of the transmitting apretn determines whether particular genes are expressed in offspring or not

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71
Q

Beckwith-Wiedemann Syndrome

A

Methylation of imprinting control region of both gametes - turns off H19/turns on IGF2 - fetal overgrowth

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72
Q

Silver-Russell Syndrome

A

No methylation of ICR in either gamete - turns on H19/turns off IGF2 - fetal growth retardation

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73
Q

Prader-Willi Syndrome

A

Missing genes from dad - low muscle tone, short stature, cognitive disabilities - uniparental disomy (2 copies from mom) - epigenetically silenced gene from father - deletion of 15q11

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74
Q

Angelman Syndrome

A

Missing genes from mom - Neuro-genetic disorder w/ severe intellectual/developmental disability, sleep disturbance, seizure, usually happy demeanor - Uniparental disomy from dad - deletion of 15q11

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75
Q

What is the difference between a mutation and a SNP?

A

A mutation occurs in 1%

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76
Q

Transition

A

One purine or pyrimidine swapped for another

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77
Q

Transversion

A

Purine for pyrimidine - higher chance for damage

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78
Q

Each gamete has ______ de novo mutation

A

~75

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79
Q

Why do most mutations disappear?

A

Most are not in the germline and aren’t passed down to offspring

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80
Q

Genetic drift

A

Random process by which some mutations rise in the population and others disappears - how most mutations become SNPs

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81
Q

Selection

A

Occurs if a mutations affects the reproductive fitness of an individual - positive helps - negative hurts reproductive success

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82
Q

Migration

A

Mating between two sub-populations - depends size of population over successive generations

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83
Q

_________ has lead to unique polymorphisms to different ethnic/regional gropus

A

Human migration

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84
Q

Hardy-Weinberg Equilibrium

A

Describes and predicts genotype and allele frequencies in a non-evolving population - if no evolution is occuring allele freq will remain in equilibruim

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85
Q

Assumptions of Hardy-Weinburg (5)

A
  1. No mutation must occur - no new alleles
  2. No gene flow can occur - no migration
  3. Random mating
  4. Population must be large - no genetic drift influencing fruqency
  5. No selection can occur
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86
Q

Why did Sickle Cell Anemia depart from Hardy-Weinburg?

A

It conveyed some defense against malaria - postive selection

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87
Q

Linkage disequilibrium

A

Non-random assortment due to proximity of two SNPs

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88
Q

Haplotype

A

Patterns of SNP alleles on a single chromosome (haploid)

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89
Q

Does a high LD correlate to a high or low number of haplotypes?

A

Low - more linkage - fewer combinations

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90
Q

LD Blocks

A

LD does not continuously decline with distance - ∃ blocks that inform eachother - highly conserved

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91
Q

Tag SNPs

A

Minimum SNP set to ID a haplotype - Need ~500K tag SNPs for entire genome

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92
Q

Expect ___ haplotypes when genotyping 1000 individuals from MIlwaukee for X SNPs if in linkage equilibrium

A

2^x haplotypes

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93
Q

What did the HapMap project do?

A

Looked at 6 million SNPs and identified tag SNPs in each population - Only need to look at ~ 500k SNPs

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94
Q

Polygeneic disorders

A

Multiple genes with multiple phenotypes and multiple environmental factors

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95
Q

What are two characteristics of polygeneic disorders?

A
  1. Have a genetic disposition - not Mendelian Inheritance

2. Variable due to environmental stresses

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96
Q

Association Studies

A

Test for assocaition of marker allele with the disease - look at presence of genotype w/ pheontype

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97
Q

Association studies are used to look at what type of diseases

A

Complex inheritance, common diseases, polygenic - Look at presence of genotype w/ phenotype - ID of associated alleles

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98
Q

Linkage studies are used to lok at what types of diseases?

A

Mendelian genes with high penetrance - correlate inheritance of genotype with phenotype - ID of linked region

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99
Q

Indirect association

A

Indirect association of each marker with a quantitative trait - frequency of allele T signficantly correlated w/ higher level of the trait

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100
Q

Common variant-Common disease model

A

Susceptibility to common disease is conferred by alleles that are commin the population and have modest phenotypic effect - affected indiviudals have an excess

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101
Q

What is the benefit of a genome wide association study?

A

Allows for search of common variants without any assumptions about their nature

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102
Q

Case control

A

GWAS selecting individuals from both categoreies and ID frequncy differneces between groups - Analysis by chi-square test

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103
Q

Population based study

A

Select indiviudals randomly from population and ID phenotypic differnces between genotype group - anlysis by t-test

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104
Q

Problems with candidate gene studies (3)

A
  1. Replication
  2. Selection of candidate genes
  3. Selection of SNPs - comprehensive analysis better than analysis of individual SNPs
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105
Q

Significance in GWAS

A

(.05/# of SNPs) P-values must be < .5 X 10^-8

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106
Q

PPAR-γ

A

Nuclear hormone receptor on chr. 3 - over-expression in mice inhibits insulin release - associated with diabetes

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107
Q

Genotype quality control measures (3)

A
  1. Testing sample duplicates - same platform/different platform
  2. Blank tests - establish specificity distinguishing blanks from non-blanks
  3. Comparison between observed frequency w/ HW
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108
Q

Heat Shock Serine Protease HTRA 1

A

Associated with wet from of age-related macular degeneration

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109
Q

Problems in complex disease genetics (4)

A
  1. GWAS are difficult and elaborate
  2. Phenotype/diseases are often heterogeneous - same clinical manifestation - differnt cause
  3. Differing severity
  4. Tag SNPs make ID of “true” causal mutations difficult
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110
Q

eQTL Analysis

A

Have there been changes in DNA that affect expression levels

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111
Q

Inbred strain

A

Individuals of a particular species which are nearly identical to each other in genotype due to long inbreeding

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112
Q

Quantitive Trait Loci Analysis

A

Cross inbred diabetes rat w/ normal rat

  • F1 is normal
  • F2 is combination generation - look at large panel of F2 and level of diabetes - LOD scores
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113
Q

Three structures of sperm

A
  1. Flagellum
  2. Acrosome
  3. Nucleus
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114
Q

Layers around ovulated oocyte (outside to in)

A

Zona pellucida, PM, cortex, and cortical granules

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115
Q

Ovulations occurs from the _______. The oocyte is surrounded by __________ and __________.

A
  1. Stigma
  2. Follicular fluid
  3. Cumulus cells - critical for oocyte pick up
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116
Q

Genetic abnormalities in gametes usually occur during _______________.

A

Gametogenesis

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117
Q

Ideally, fertilization occurs in the _________.

A

Ampulla - early part of fallopian tube.

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118
Q

Journey of sperm thru male reproductive tract

A

Testes, epididymis, vas deferens, urethra

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119
Q

Barriers to sperm in the female (4)

A
  1. Low pH
  2. Sperm antibodies
  3. Cervical mucosa
  4. Travel up wrong fallopian tube
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120
Q

Journey of ovulated oocyte

A
  1. Oviduct moves up around ovary to capture cumulus mass

2. Oviduct has cilia to move oocyte and peristaltic contraction when it’s in the ampulla

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121
Q

Capaciation

A

Sperm membrane changes, increased metabolism, hypermotility - sense temp gradient

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122
Q

Acrosome Rx

A

1st thing that happens right before sperm encounters cumulus mass - fusion btw cell membrane and outer acrosome - vesicles are shed - exposes enzymes

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123
Q

What receptor do sperm bind to?

A

ZP2 - sperm membrane protein is SED

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124
Q

Sperm-oocyte fusion occurs at the ________ region of sperm.

A

Equatorial

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125
Q

What proteins does a sperm need to fuse with an oocyte?

A

Feritlin B, IZUMO

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126
Q

What proteins does an oocyte need to fuse with a sperm?

A

Integrin, CD9

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127
Q

Polyspermy preventing reactions (3)

A
  1. Ca++ Oscillation
  2. Activates cortical granules - release into perivertellen space
  3. Cross link zona pellucida proteins
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128
Q

What happens immediately after a sperm enters an oocyte (3)

A
  1. Polyspermy preventing reactions
  2. Resume meiosis of oocyte (MII metaphase)
  3. M and F pronuceli form metaphase plate - zygote!!
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129
Q

What stage of IVF has the highest risk of failure?

A

Embryo transfer

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130
Q

At what stage are the embryos transferred to uterus?

A

The 4-8 cell stage

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131
Q

Preimplantation genetic diagnosis

A

Taking away one cell does not inhibit development or damage embryo

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132
Q

What main things happen during the embryonic period? (4)

A
  1. Form body plan - 3 layers & 3 axes
  2. 3 layers create 4 tissues - organs and organ systems
  3. Segmentation, head, limb and trunk formation
  4. Embryo folding
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133
Q

What two main things happen during the fetal period?

A
  1. Growth and maturation

2. Continued development of some systems

134
Q

What weeks make up the embryonic period?

135
Q

What weeks make up the fetal period?

136
Q

What is the difference between the fertilization age and the gestation age?

A

The fertilization age is the age of the embryo where gestational age starts from the last menstruation

137
Q

What main events occur during Week 1? (3)

A
  1. Fertilization
  2. Cleavage - Blastocyst formation
  3. Implantation initiated
138
Q

Cleavage and formation of the blastocyst is controlled by what?

A

Maternal RNAs

139
Q

The nucleus from an early cleavage state _________ is capable of generating a whole embryo.

A

Blastomere

140
Q

The morula is formed at the 8-cell stage via __________ and the blastocyst is formed via ___________.

A
  1. Compaction

2. Cavity formation

141
Q

Cavity formation in a blastocyst forms the ____________ and the _________________.

A

Inner cell mass and outer cell mass

142
Q

What is the result if nondisjunction occurs during an early cleavage?

A

Mosaic embryo

143
Q

The outer cell mass forms the _____________.

A

Trophoblast

144
Q

Trophoblast formation is an example of _____________.

A

Genomic imprinting - requires expression of unknown parental derived alleles

145
Q

The ICM remodels to form the ____________.

A

Bilaminar disc (epiblast and hypoblast)

146
Q

What will the hypoblast make?

A

Will make extraembryonic membrane - primitive endoderm

147
Q

What will the epiblast make?

A

Will make the embryo - primitive ectoderm

148
Q

What is the function of the ZP?

A
  1. Keeps blastomeres together
  2. Immunological barrier
  3. Prevents premature implantation
149
Q

How does the embryo shed the ZP?

A

Trophoblasts produce an enzyme to help it hatch out

150
Q

Cleavage stage embryos have the potential for regulation. Define regulation.

A

The ability of an embryo to produce a normal embryo when parts have been removed or added.

151
Q

What mediates the cell diversity in the blastomere? (4)

A

Cell position, number of divisions, cytoplasmic determinants, and cell-cell interactions

152
Q

What is the difference between terminal differentiation and post-mitotic cells?

A

Terminally differentiated cells can not become anything else, some are post-mitotic - neurons & some are not - cells lining GI

153
Q

Stem cells

A

Differentiated cell that retains some pluripotent capabilities

154
Q

Gene expression is patterned, it occurs at different levels, along specific axes, is the result of ___________ mediated by ______________.

A

Gene expression, transcription factors

155
Q

HOX genes

A

Differential expression of HOX is how patterning during development is developed

156
Q

How are dizygotic (paternal) twins formed?

A

Two ovulation and two fertilizations

157
Q

How are monozygotic twins formed?

A

Early or late cleavage - 65% at blastocyst stage

35% at two cell stage (between blastocyst and morula) - two embryos and two implantations

158
Q

How are conjoined twins formed?

A

Monozygotic twins divide after formation of embryonic disc

159
Q

What three main things have occurred at the end of week 2?

A
  1. Complete implantation
  2. Formation of bilaminar disc - amnion and umbilical vesicle
  3. Formation of additional extraembryonic mesoderm
160
Q

Implantation occurs between days _______

161
Q

The decidual reaction of the attachment phase of implantation involves

A
  1. Trophoblast binds to endometrium - forms of compact layer of endometrium - makes mass of cells for implantation of embryo
162
Q

The 2 phases of implantation are

A
  1. Attachment - receptor mediated

2. Penetration and embedment into compact layer

163
Q

Phase 2 - Penetration and embedment - of implantation is characterized by what?

A

The formation of the syncytiotrophoblast

164
Q

What are four characteristics of the syncytiotrophoblast?

A
  1. No cell boundaries - lots of nuclei
  2. Mediates invasion of endometrium - more is formed as embryo embeds further
  3. Microvilli on surface help it incorporate nutrients
  4. Lacunae (spaces) are formed for blood and glandular secretions
165
Q

At 12-14 days the embryo is ________ ________.

A

Completely embedded

166
Q

What is the most common cause of spontaneous abortions in the first three weeks?

A

Chromosomal abnormalities

167
Q

Placenta previa

A

Implantation occurs too close to the cervix

168
Q

What is the most common site of extrauterine pregnancy?

A

Outer 1/2 of oviduct

169
Q

Amnion

A

Extraembryonic membrane formed from epiblast - Surrounds embryo by Week 8

170
Q

What is the function of the amnion?

A
  1. Creates a space for amniotic fluid
  2. Protects embryo and allows for symmetrical growth
  3. Allows for proper growth of lung
  4. Allows for movement
  5. Assists in fluid homeostasis
171
Q

Umbilical Vesicle (Yolk sac)

A

Exocoelomic membrane formed by hypoblast - bounded by extraembryonic membrane

172
Q

What is the function of the umbilical vesicle?

A
  1. Metabolism and transfer of nutrients from trophoblast to embryo
  2. Site of initial blood and vascular formation
  3. Primordial germ cells and hematopoiesis appear in wall
  4. Portions may become primitive gut
  5. Positions site of gastrulation - primitive streak
  6. Controls epiblast cell migration
173
Q

Extraembryonic mesoderm

A

Coats the inside of the trophoblast and outside of amnion and UV.

174
Q

Mesenchyme

A

Free cells, non-polar, motile

175
Q

Where does the extraembryonic mesoderm originate?

A

From exocoelomic membrane by delamination of cells - epithelial-mesenchymal transformation

176
Q

Chorion

A

Extraembryonic mesoderm and trophoblast

177
Q

Connecting Stalk

A

Bridge of extraembryonic mesoderm between chorion and embryo

178
Q

What are 4 main things that happen in week 3?

A
  1. Establish 3 primary germ layers
  2. Beginnings of organogenesis
  3. Embryo begins to fold - neural tube growing so fast it can’t remain a disk
  4. Establishment of asymmetry
179
Q

Conceptus

A

Embryonic disc and chorionic sac

180
Q

The trilamiar disc is formed via __________.

A

Gastrulation

181
Q

Primitive Streak

A

Transient thickening of epiblast with a midline groove - converging epiblast cells

182
Q

The first cells that pass the the PN form ______________, other cells pass thru and move to the opposite end of the disc to form ______________, the 2nd cells to pass thru the PS form _________________.

A
  1. Definitive endoderm - replaced hypoblast
  2. Prechordal plate (endoderm)
  3. Intraembryonic mesoderm - between endoderm and epiblast
183
Q

Epithelial-mesenchymal cell transformation occurs at ________________.

A

The primitive streak.

184
Q

What is the ectoderm formed from?

A

Cell leftover from gastrulation

185
Q

Primitive Node

A

An expansion at the cranial end of the primitive streak - also a side of E-M transformation

186
Q

What axis does the primitive node establish?

A

Cranial and caudal

187
Q

How is the notocord formed?

A

Cells from prechordal plate invaginate thru PN - migrate cranially, they join up with the endoderm temporarily - help form the neural tube

188
Q

The primitive streak regresses, is restricted to the _____ and forms the ____________.

A

Tailbud, caudal eminence

189
Q

At what two points of the embryo is there no mesoderm?

A
  1. Oropharyngeal membrane cranially

2. Cloacal membrane caudally

190
Q

Allantois

A

Diverticulum of umbilical vesicle - signaling center, becomes part of median umbilcal ligament

191
Q

Teratoma

A

Neoplasm of multiple cell types - usually sacrococcygeal - most common tumor of newborns

192
Q

What causes a teratoma?

A

Part of the primitive streak that didn’t disappear

193
Q

Caudal dysgenesis

A

Abnormalities of lumbosacral spine, lower limbs and urogenital system

194
Q

What genes establish the cranial-caudal axis?

A

Otx2, Lim1, Hesx1

195
Q

What genes establish the dorsal ventral axis?

A

Chordin, noggin, follistatin

196
Q

What establishes bilateral symmetry?

A

The notochord

197
Q

What establishes asymmetry L/R axis?

A

PN gene expression - Lefty 1, Lefty 2

198
Q

Situs inversus

A

Lefty 2 misexpression on the right

199
Q

Gastrulation

A

Three primary germ layers formed

200
Q

Neurulation

A
  1. Formation of neural plate - day 17
  2. Neural plate cells get taller
  3. Neural folds elevate - neural groove formed
  4. Neural folds fuse
201
Q

Neural crest

A

Mesenchyme derived - separate from tube jsut be fore fusion - Precursor for 1˚sensory neurons, PNS sheathing cells, neurons of autonomic ganglia, adrenal medulla, and pigment cells

202
Q

Ectoderm will become

A

epidermis, CNS, parts of eye, ear, and sense of smell

203
Q

Mesoderm will become

A

Organs, sk. muscle etc

204
Q

Endoderm will become

A

Internal tube of GI, Resp, part of UG

205
Q

Paraxial mesoderm will become

A

Sk. muscle and vertebral column

206
Q

Intermediate mesoderm will become

A

Kidneys, gonads, and UG

207
Q

Lateral mesoderm will become

208
Q

Paraxial mesoderm is segmented in the trunk and forms _______.

209
Q

How are somites formed?

A

Mesenchyme aggregation and separation of somite pairs is mediated by segmentation clock and wave model

210
Q

What patterns the somites along the cranial-caudal axis?

A

Homeobox Genes

211
Q

Intracellular Ceolom

A

Splits lateral mesoderm - Somatic and Splanchnic Mesoderm

212
Q

Somatic Mesoderm

A

Associates with ectoderm - body wall, limbs, epithelium and connective tissue of parietal layer lining body cavity

213
Q

Splanchnic Mesoderm

A

Associates with endoderm - GI organs, reproductive

214
Q

What does folding in the transverse plane yield?

A

Tubular embryo - outer tuber - ectoderm ; inner tube - endoderm - Also the body plan

215
Q

What does folding in the sagittal plane yield?

A

C-shaped embryo - embryo lifted into amniotic cavity

216
Q

Result of folding (3)

A
  1. Establishment of body form
  2. Structures relocated from dorsal wall to ventral wall
  3. Closure of ventral body wall
  4. Embryo elevated into amniotic cavity
217
Q

Characteristics of embryo at week 4

A
  1. Heart is beating
  2. Embryonic circulation is established and connected to the yolk sac and placenta
  3. Neural tube is most closed
  4. Folding has begun
  5. Somites continue to form
  6. Embryo is 2mm long
  7. Chorionic sac is 2mm in diameter
218
Q

Gastroschisis

A

Intestinal tract is out to side of umbilical cord - 10% are stilborn

219
Q

Emphalaceal

A

Intestinal tract comes out thru umbilical cord covered by a membrane - harder to fix

220
Q

Throachoabdomanoschisis

A

Ventrothorasic and ventroabdominal wall didn’t close - organs outside body

221
Q

Failure of ventral body wall to close can result in which three anterior body wall defects?

A
  1. Gastroschisis
  2. Emphalaceal
  3. Throachoabdomanoschisis
222
Q

What are the pleuropericardial folds formed by and what do they contain?

A

Growth of septum from body wall

Contains a few veins and the phrenic nerve

223
Q

Pericardio-peritoneal canals

A

Connect pleural cavity and peritoneal cavity

224
Q

What is the diaphragm composed of? (3)

A
  1. Pleuroperitoneal folds - diaphragm
  2. Septum transversum - liver
  3. Dorsal mesentery of esophagus - crura
225
Q

What is the primitive node?

A

Signaling center at the cranial end of the primitive streak. Forms at day 16.

226
Q

What is the prechordal plate?

A

An area of mesoderm caudal to oropharyngeal membrane and cranial to the notochord - important organizing and signaling center for head development

227
Q

Mesenchymal-Epithelial Transformation

A

Cells lose cell processes, become polarized, and develop cell junctions that enable them to form a layer or sheet.

228
Q

Anterior Ventral Endoderm

A

An area of endoderm located at the cranial most margin of bilaminar disc - prior to gastrulation - determines head

229
Q

Describe the clock and wave model of signaling

A
  1. Segmentation clock - negative feedback of notch signaling
  2. Wave - gradient of Fgf8 expression that regulates the competence of paraxial mesoderm cells to respond
230
Q

Intraembryonic coelom

A

Space within lateral mesoderm

231
Q

What do hemeangioblasts form?

A

Lining of the vascular system and blood cells

232
Q

What happens in Week 4? (3)

A
  1. Embryo folding
  2. Appearance of limbs and pharyngeal arches
  3. Beating heart
233
Q

What is the Critical Period and when is it?

A

The time when the embryo is most sensitve to external insult is between the 3rd and 8th week

234
Q

Besides HOX, what are two other families of genes that mediate patterning in the embryo?

A
  1. Paired Box (Pax)

2. POU genes

235
Q

What happens in Week 4? (3)

A
  1. Embryo folding
  2. Appearance of limbs and pharyngeal arches
  3. Beating heart
236
Q

What is the Critical Period and when is it?

A

The time when the embryo is most sensitve to external insult is between the 3rd and 8th week

237
Q

Besdies HOX, what are two other families of genes that mediate patterning in the embryo?

A
  1. Paired Box (Pax)

2. POU genes

238
Q

What are four things associated with increased incidences of birth defects?

A
  1. Increasing parental age
  2. Season of the year when the child is conceived
  3. Country of residence
  4. Familial tendencies
239
Q

What percentage of babies will be born with a clinically significant (major) birth defect?

240
Q

What causes birth defects (4)

A
  1. Genetic - 13-15%
  2. Environmental 7-10%
  3. Multifactorial 20-25%
  4. The rest are unknown 50-60%
241
Q

What are four things associated with increased incidences of birth defects?

A
  1. Increasing parental age
  2. Season of the year when the child is conceived
  3. Country of residence
  4. Familial tendencies
242
Q

What is a defect or malformation and give an example

A

A morphological abnormality from abnormal developmental mechanisms - cause is intrinsic to development can be inherited i.e. dysplasia

243
Q

What is a disruption?

A

A morphological abnormality resulting for a breakdown or interference with an originally normal development process - chemicals/drugs/infections - extrinsic factors

244
Q

What is a deformation?

A

The abnormal form, shape, or position of a normally formed body part - caused by mechanical forces - can sometimes be reversed

245
Q

Polytopic field defect

A

Pattern of anomalies derived from a disturbance o f a single developmental field

246
Q

Normal variation

A

Morphological variation of a structure is a predictable variance - i.e. branching pattern, extra muscle belly

247
Q

A syndrome

A

Patterns of multiple anomalies that are seen together and are thought to have a common cause - differs from a polytopic field

248
Q

An association

A

A statistically significant, non-random occurrence of two or more individuals of multiple anomalies

249
Q

Normal variation

A

Morphological variation of a structure is a predictable variance - i.e. branching pattern, extra muscle belly

250
Q

Polyploidy

A

3n, 4n, etc

251
Q

Teratogen

A

Any agent that can produce a congenital anomaly or raise the incidence of an anomaly

252
Q

What are the five major classes of teratogens?

A
  1. Infections - Rubella
  2. Ionizing radiation and other physical agents
  3. Drugs and chemicals - thalidomide, alcohol
  4. Imbalance of essential metabolites and hormones - Congenital adrenal hyperplasia
  5. Maternal factors - illness, T2D, smoking
253
Q

Teratology/Dysmorphology

A

Branch of science that studies the causes, mechanisms, and patterns of abnormal development

254
Q

What are the major principles that describe how teratogens affect development? (5)

A
  1. Susceptibility is dependent on age of embryonic development
  2. Activity is most sensitive during periods of organ/structure development
  3. Genotype of embryo and mother can modify susceptibility
  4. Degree depends on dose and duration
  5. Effects are due to specific mechanisms
255
Q

What is on the A-list of drugs that cause birth defects?

A

Antibiotics, Anti-nauscants, anticoagulants, alcohol, anti-anxiety agents, antiHTN, antipsychotic, androgenic steriods

256
Q

What is the defining characteristic of pluripotent stem cells?

A

Ability to generate all cell types of the body or form an entire organism

257
Q

Where do embryonic stem cells come from?

A

Derived from inner cell mass of blastocyst - preimplantation stage embryo

258
Q

What 2 methods can be used to produce pluripotent stem cells from differentiated cells?

A
  1. Somatic cell nuclear transfer

2. Direct reprogramming

259
Q

How would you describe the potential of a mesenchymal stem cell?

A

Multipotent - osteoblasts, chondroblasts, and adipocytes

260
Q

What is the main role of resident stem cells?

A

Primarily involved in tissue homeostasis and repair

261
Q

What stage is the embryo in during the initial stage of implantation?

A

Bilaminar disk - epiblast and hypoblast

Trophoblast - mitotically active when it attaches - syncytiotrophoblast

262
Q

Functional Zone

A

Outer 2/3 of the thickness of the endometrium - participates in cyclic changes of menstrual cycle - Implantation occurs here

263
Q

Basal Zone

A

Inner 1/3 of endometrium adjacent to myometrium - generate new functional zone each menstrual cycle

264
Q

What stage is the embryo in during the initial stage of implantation?

A

Bilaminar disk - epiblast and hypoblast

Trophoblast - mitotically active when it attaches - syncytiotrophoblast

265
Q

Where is hCG secreted and what is its role?

A

By the syncytiotrophoblast - rescues corpus luteum until the placenta can take over production of estrogen and progesterone

266
Q

Decidual reaction

A
  1. Stromal cells become enlarged - Compact layer
  2. Enlargement of glands and the decidual cell thickens endometrium
  3. Blood flow is increased
267
Q

Which zone of the endometrium participates in the decidual reaction?

A

The Functional zone?

268
Q

What are the layers of the decidua from the embryo out

A

Decidua basalis - adjacent to embryo
Decidua capsularis - surrounds chorionic sac
Decidua parietalis - remainder of uterine endometrium

269
Q

Primary chorionic villi

A

Little fingers of cytotrophoblast that extended into the syncytiotrophoblast toward the endometrium

270
Q

Secondary chorionic villi

A

Occurs when extraembryonic mesoderm forms a central core - days 12-20

271
Q

Tertiary/Mature chorionic villi

A
  1. Vascular precursor ells of extraembryonic mesoderm form a primitive vascular network within mesodermal core of villi
  2. Connect with the vascular network in chorion
272
Q

What components of mature chorionic villi are formed in the placenta

A
  1. Stem villi - central core/tree trunk
  2. Intermediate (floating) villi - branches
  3. Terminal Villi - leaves - contain sinusoids - exchange happens here
273
Q

Chorionic plate

A

Chorion that forms the wall of the chorionic sac - stem villi are rooted here

274
Q

Cytotrophoblastic Shett

A

Extension of cytotrophobast from stem villus that join together - anchors the chorionic sac to the endometrium

275
Q

Chorion Laeve

A

The chorionic villi formed in the disidua capsularis disappear as the chorion gets thinner w/ growht of fetus - smooth leftover layer

276
Q

Chorion Frondosum

A

Chorion adjacent to the decidua basilis

277
Q

Umbilical vessels

A

Connects vasculatures of the embryo to the chorion

278
Q

Vascular formation in Week 4

A
  1. Vascular system of embryo is connected to the vasculature of chorion as well as the yolk sac
  2. When blood vessels appear in embryo circulation becomes intraembryonic
279
Q

Viteline vessels

A

Vessels connecting the vasculatures of the embryo to the yolk sac

280
Q

Umbilical vessels

A

Connects vasculatures of the embryo to the chorion

281
Q

In the placenta the chorionic villus trees are surround by intervillous spaces containing ____________. The _______________ deliver ________________.

A
  1. maternal blood
  2. endometrial arteries
  3. blood to the intervillous space
282
Q

What constitutes the placental barrier in the 1st trimester? (6)

A
  1. Syncytiotrophoblast
  2. Cytotrophoblast
  3. Basement membrane
  4. CT of villi
  5. BM
  6. Sinusoid endothelmium
283
Q

What constitutes the placental barrier in the 3rd trimester? (4)

A
  1. Think layer of syncytiotrophoblast
  2. CT
  3. BM
  4. Sinusoid endothelium
284
Q

After 4 months of development what changed occur in the placenta?

A

The syncytiotrophoblast thins and the cytotrophoblast begins to disappear

285
Q

What is the difference between the fetal face and the maternal face of the placenta?

A
  1. The fetal side is the shiny side - chorioamniotic membrane - placental blood vessels converging into umbilical vessels
  2. Maternal side is the muddy side - cotyledons are visible
286
Q

Cotyledon

A

Mature 3˚chorionic villus separated by placental septa

287
Q

Placental septa

A

Partition of placental tissue separating adjacent intervillous spaces

288
Q

What substance can cross the placenta?

A

Gasses, ions,glucose, proteins, hormones, some drugs, infectious agents, EtOH

289
Q

How do proteins and larger molecules cross the barrier?

A

Via endocytosis or pinocytosis

290
Q

What does the placenta produce?

A
  1. Steroid, peptide, glycopeptide hormones
  2. Placental proteins
  3. Can make glycogen, cholesterol, and FA
291
Q

What factors prevent the mother from rejecting the fetus?

A
  1. Absence of paternal-derived histocompatibility antigens on the surface of the syncytiotrophoblast
  2. Selective suppression of maternal immune system
  3. Creation of immunologically privileged site by decidual reaction
292
Q

Basal plate

A

Formed by the deciuda basalis (functional zone) and chorionic tissue

293
Q

Placental base

A

Basal zone next to placenta - remains to form new functional zone

294
Q

Placental abruption

A

Unexpected hemorrhage can mediate premature separation of the placenta - blood acts like a wedge that separates the placenta from the uterus

295
Q

What can cause placental abruption?

A
  1. Smoking
  2. Maternal malnutrition
  3. Hypertension
  4. Trauma
  5. Drug abuse
296
Q

Molar pregnancy

A

Only paternally-derived DNA is present in trophoblastic tissue (genomic imprinting)

297
Q

What is an indicator of a molar pregnancy

A

Abnormally high hCG

298
Q

Placental accreta

A

Implantation extends into basal zone - separation is impossible - otherwise it becomes cancerous

299
Q

Velamentous cord insertion

A

Umbilical vessels extend into chorioamniotic membrane

300
Q

Field defect

A

Pattern of anomalies derived from a disturbance of a single embryonic field - midline, tailbud region - rare

301
Q

Syndrome

A

Pattern of multiple primary anomalies which are seen together and causally related - fetal alcohol syndrome

302
Q

Sequence (defect)

A

Pattern of anomalies which results from a single primary anomaly - insufficient amniotic fluid - compressed facial features

303
Q

Chronic granulomatous disease

A

Inherited NADPH oxidase deficiency - infections

304
Q

Reperfusion injury

A

Ischemia - resumption of blood flow causes damage - inc. hypoxanthine and inc. xanthine oxidase - increased formation of oxygen-derived radicals

305
Q

How do you treat a reperfusion injury?

A

Allopurinol, antioxidant enzymes, iron chelators

306
Q

How do you form singlet oxygen?

A

Photosensitive dye - oxygen with empty orbital - very short lived oxidizes target very quickly

307
Q

Photodynamic therapy

A

Using singlet oxygen to selectively bind dye to tumor - localized light delivery

308
Q

Cutaneous porphyria

A

Defective heme synthesis - accumulates in skin - sun causes skin blistering/swelling due to formation of singlet oxygen

309
Q

Peroxynitrite

A

Potent oxidant - reacts with lipid, protein, and DNA - also removes NO required for vasodilation

310
Q

NO synthase

A

L-arginine, NADPH, O2, (cofactors: calmodulin, Ca, and BH4)

311
Q

LNAME and LNMMA

A

Inhibit NO

LNAME - nonspecific

312
Q

Inhibitors of BH4 synthesis will _______ nitric oxide biosynthesis

313
Q

NADPH oxidases

A

Generate superoxide and hydrogen peroxide - only known function

314
Q

NOX1 etc.

A

(NADPH Oxidase) Multi-enzyme complex - different types

315
Q

Inhibition and interception of ROS and RNS (3)

A

Small molecular weight antioxidants (vitamin E, C glutathione)

  1. Antioxidant gene expression (heme, glutathione syn)
  2. SOD - not completely detox - reduces superoxide
316
Q

Catalase

A

Reacts with hydrogen peroxide - use in conjunction with SOD

317
Q

Glutathione peroxidases

A

Removes hydrogen peroxide - uses up one NADPH - pentose phosphate pathway

318
Q

Small Molecule Antioxidants (4)

A
  1. Vitamin C
  2. Vitamin E
  3. Glutathione (GSH)
  4. Beta-carotene
319
Q

Cross talk between lipophilic and hydrophilic antioxidants

A

Vitamin E is lipophilic - Vitamin C is hydrophilic

Vitamin E radical is recycled back to Vita E by reacting w/ ascorbate at the surface

320
Q

Oxidative stress

A

Imbalance between prooxidant and antioxidant levels - favoring prooxidants

321
Q

Oxidative damage

A

Modification of lipids, proteins, DNA

322
Q

When will antioxidant therapy work?

A

Kwashiorkor (low levels of glutathione) - chronic inflammatory conditions - iron overload - vitamin deficiency

323
Q

Lipid peroxidation

A

Associated with atherosclerosis - cycle can go on and on - need terminating reaction i.e. Vitamin E

324
Q

Keap1-Nrf2-ARE pathway

A

ROS activate this pathway to transcribe more antioxidant genes (SOD, Heme oxygenase)
Nrf2 = TF

325
Q

Curcumin

A

Activates Keap1-Nrf2 pathway

326
Q

Mitohormesis

A

Links physical exercise and formation of ROS to insulin sensitivity and antioxidant defense

327
Q

Adverse side effects of chemotherapy (doxorubicin)

A

From ROS/RNS - cardiomyopathy years later

328
Q

What is the cause of cardiotoxicity with doxorubicin use?

A

Mitochondrial DNA damage, protein oxidation, lipid peroxidation (From Fe + H2O2)

329
Q

What is given to avoid doxorubicin toxicity?

A

Iron chelators and vitamin E

330
Q

Cisplatin

A

Chemotherapy - nephrotoxicity - DNA damage, inhibits DNA repair - increases NOX, iNOS

331
Q

Cisplatin

A

Chemotherapy - nephrotoxicity - DNA damage, inhibits DNA repair - increases NOX, iNOS

MtC Block 3 (1 decks)

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