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Module 1 Flashcards

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1
Q

What is Transmission Genetics?

A
  • focuses on the individual
  • how genes are passed
  • meiosis, reproduction, heredity
  • genes and phenotype probabilities and the factors that affect it
  • proximity affects recombination adn frequency and probability of a gamete being produced
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2
Q

What are molecular genetics?

A
  • focuses on gene
  • structure organization and function of gene
  • replication, transcription, translation
    consequences of mutations at protein level
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3
Q

What is population genetics?

A
  • focuses on a group of genes in a population
  • Hardy Weinberg
  • phylogenic trees
  • factors can change genetic composition of pop over time.
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4
Q

What are the subdivisions of genetics?

A
  • biotech
  • population
  • molecular
  • transmission genetics
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5
Q

Do eukaryotes have a nucleus?

A

yes it has a nucleus that has chromosomes

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6
Q

What cells are eukaryotes?

A

-plant and animal cells

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7
Q

Are prokaryotes or eukaryotes bigger?

A
  • eukaryotes
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8
Q

What size are eukaryotes?

A
  • larger
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9
Q

What size are prokaryotes?

A
  • smaller
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10
Q

What does DNA look like in a eukaryote?

A
  • multiple linear DNA molecules
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11
Q

Do eukaryotes have a histone?

A
  • yes
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12
Q

Does a eukaryote have membrane-bound organelles?

A

yes

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13
Q

What kind of DNA does prokaryotes have?

A
  • 1 circular DNA molecule
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14
Q

How much DNA does a prokaryote have?

A

small amount of DNA

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15
Q

Do prokaryotes have histones?

A
  • no DNA in bacteria
  • some DNA in archaea
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16
Q

Do prokaryotes have membrane-bound organelles?

A
  • no
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17
Q

What does every functional chromosome have?

A
  • centromere
  • telomere
  • at least one origin of replicaiton
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18
Q

How many centromeres can a chromosome have?

A

more than 1

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19
Q

How many chromatids can a chromosome have?

A

1 or 2

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20
Q

How can you determine the number of chromosomes from the number of centromeres?

A

they are equal

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21
Q

Are all centromeres in the middle?

A

no centromeres can in be in all different locations as long as chromosomes of the same type have the centromere in the same place

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22
Q

What are homologous chromosomes?

A
  • have same info but slightly different ways of expressing it
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23
Q

What is a gene?

A

a unit of genetic material

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24
Q

What is an allele?

A
  • a version of a gene
  • a gene can have 1000s of alleles
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25
Q

What is a locus?

A
  • the location in the chromosome where the gene is found
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26
Q

What is a karyotype?

A
  • organized array of an individuals chromosome
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27
Q

What are autosomes?

A

same chromosomes and number of homologs between sexes

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28
Q

What are sex chromosomes?

A
  • different chromosomes or number of chromosomes between sexes
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29
Q

What happens in g1 phase of the cell cycle?

A
  • cell grows and produces proteins
  • part of interphase
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30
Q

What happens in the s phase of the cell cycle?

A
  • DNA syntheses
  • 1 chromatid to two chromatids
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31
Q

What happens in the g2 phase of the cell cycle?

A

cell growth

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32
Q

What happens in the mitotic phase of the cell cycle?

A
  • mitosis and cytokinesis
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33
Q

What phase of cell division contains g1, s, and g2 of the cell cycle?

A

interphase

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34
Q

What is N?

A
  • the ploidy number
  • number of sets of chromosomes
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35
Q

What ploidy number are humans?

A
  • 2n
    -diploids
  • 2n=46
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36
Q

What is the total number of chromosomes?

A

The total number of chromosomes in a somatic cell during g0 or g1

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37
Q

What is a haploid?

A
  • bacteria
  • 1 of each chromosome
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38
Q

What is a diploid?

A
  • 2 of each chromosome type during g0 or g1
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39
Q

What is mitosis?

A

-regeneration of pre-created cells

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40
Q

What are the phases of mitosis?

A
  • interphase (kinda)
  • prophase
  • metaphase
  • anaphase
    -telophase
  • cytokinesis
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41
Q

What happens during mitotic prophase?

A
  • chromosomes condense
  • nuclear envelope breaks down
  • spindles develop
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42
Q
  • What happens during mitotic metaphase?
A
  • spindle poles form
  • checkpoint
  • everything lines up in center
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43
Q

What are spindle poles made of?

A
  • microtubules
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44
Q

What happens during mitotic anaphase?

A
  • chromosomes split into 2 daughter chromatids to form 2 different chromosomes since there is a centromere
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45
Q

What happens during mitotic telophase?

A
  • reform nuclear envelope
  • spindle rods let go
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46
Q

What happens during cytokinesis?

A
  • cell fully breaks down forming 2 daughter cells
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47
Q

What is meiosis?

A
  • sex/ gamete cell divides to produce 4 meiotic products with 1/2 of og chromosome number
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48
Q

What are the steps to meosis?

A
  1. reductional division
  2. equational division
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49
Q

What is reductional division?

A
  • number of chromosomes in daughter cell = 1/2 of the cell
  • 1 of each homologous pair is in daughter cell
  • SEPERATION OF HOMOLOGS
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50
Q

What is equational division?

A
  • number of chromosomes at beginning and end of division cycle is the same but daughter cells only have 1 chromatid
  • SEPERATION OF CHROMATIDS
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51
Q

What is formed by the end of meiosis?

A
  • four individual products
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52
Q

What are the phases of meiosis?

A
  • prophase 1
  • metaphase 1
  • anaphase 1
  • telophase 1
  • prophase 2
  • metaphase 2
  • anaphase 2
  • telophase 2
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53
Q

What happens during meiotic prophase 1?

A
  • homologous chromosomes pair up and synapse
  • crossing over/ recombination occurs
  • crossing over keeps chromosomes attached
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54
Q

What happens during meiotic metaphase 1?

A
  • line up in middle, but homologs are together
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55
Q

What happens during meiotic anaphase 1?

A

homologs seperate

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56
Q

What happens during meiotic telophase?

A

nuclear envelope reforms

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57
Q

What happens during meiotic prophase 2?

A
  • DNA condenses
  • nuclear envelope breaks down
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58
Q

What happens during meiotic metaphase 2?

A
  • 2 chromosomes in each cell (1/2 starting amt)
  • chromosomes line up in center
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59
Q

What happens during meiotic anaphase 2?

A

chromosomes split and pull to side

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60
Q

What happens during meiotic telophase 2?

A
  • cell starts to divide
  • nuclear envelope starts to form
  • rods break off
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61
Q

What is the importance of meiosis?

A
  • maintains constant number of chromosomes from gen to gen
  • provides genetic variability from gen to gen
  • helps with ability to adapt
  • shuffling of maternal and paternal genes allows for over 8 million gene combos
  • crossing over allows for some maternal and some paternal genes
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62
Q

How do chromatids stay together and come apart

A

cohesion and shugoshin

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63
Q

What is cohesion?

A
  • holds sister chromatids together in mitosis and miosis
  • it also acts as chiasmata in meiosis to hold homologs together
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64
Q

Is cohesion the same in meiosis and mitosis?

A

no, each one has a different form of cohesion

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65
Q

What does shugosin do?

A
  • protects cohesion at centromere in anaphase 1 of meiosis
  • is degraded by anaphase 2
  • allows homologs to separate in anaphase 1 but keeps sister chromatids together
  • only in meiosis
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66
Q

What is non-disjunction?

A
  • creates gametes with more or less chromosomes than normal
  • occurs in meiosis because of cohesion and shigoshin
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67
Q

What happens if there is non-disjunction in bigger chromosomes or more than 1 chromosome?

A

fatal

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68
Q

What is down syndrome caused by?

A

-nondisjunction
- extra 21st chromosome

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69
Q

What did Mendel do?

A
  • used math to try and understand how traits are passed from parents to offspring
  • studied pea plants to create his laws
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70
Q

What is a monohybrid cross?

A
  • one trait
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71
Q

What is pure breeding?

A
  • traits look the same generation to generation
  • multiple generations of breeding with itself
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72
Q

What are the generations in order?

A
  • P: parent generation
    -F1: first generation of offspring (PXP)
  • F2: second generation of offspring (F1xF1)
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73
Q

What did mendels research show the presence of?

A

dominant and recessive genes

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74
Q

What is a dominant gene?

A
  • only need one allele to show the trait
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75
Q

What is a recessive trait?

A
  • need two alleles to show the trait
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76
Q

What is a genotype?

A
  • the alleles a person has
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77
Q

What does homozygous mean?

A
  • two of the same allele
  • same thing as pure breeding
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78
Q

What does heterozygous mean?

A
  • 1 of each allele
79
Q

What were mendels observations?

A
  • each human has two alleles
  • hereditary determinants are distinguished units moving into offspring
  • 1 unit is dominant and the other is recessive
  • during fertilization particles separate random and equally so that each gamete contains one pair of alleles
  • fertilization is random
80
Q

What is the law of segregation?

A
  • 2 alleles on a locus don’t blend of fuse, but segregate randomly into the gametes so that 1/2 of the gametes contain 1 allele and 1/2 contain the other
  • if you are heterozygous 1/2 is R gene and 1/2 is r gene
81
Q

What do you do to test if someone is heterozygous or homozygous?

A
  • preform a cross test
  • if homozygous there is one offspring outcome
  • if heterozygous there is 3 offspring outcomes
82
Q

What is a dihybrid cross?

A
  • 2 traits
83
Q

1 heterozygous dihybrid can make how many different gametes?

A

4

84
Q

What ratio does a dihybrid cross create?

A

9:3:3:1

85
Q

What is the law of independent assortment?

A
  • segregation of alleles at one locus is independent of the segregation of alleles at all the other loci
  • basically genes don’t influence each other
86
Q

What is the multiplication rule?

A
  • if 2 events occur independently, the probability of them occurring simultaneously is the product of the probabilities occurring by itself
  • more common rule
  • think of dice landing on 6 and coin landing on heads at same time
87
Q

What is the addition rule?

A
  • the probability of 2+ mutually exclusive events is the sum of the probabilities
  • this OR that
  • rolling a 2 or rolling a 6
88
Q

How do you determine the number of gamete possibilities?

A
  • 2^n
  • where N is the number of HETEROZYGOUS loci
89
Q

What does chi square determine?

A
  • how well observed data fits unexpected results from a genetic hypothesis
  • goodness of fit
90
Q

What is Ho?

A

-your hypothesis
- the mode of inheritance for x and y in x species is simple mendelian

91
Q

What are the rules for mendelian inheritance?

A
  • 1 allele is completely dominant unless hypothesis says otherwise
  • random segregation occurs at all loci involved in the test
  • independent assortment occurs at all loci involved in the test
  • random fertilization occurred in producing the individuals in the generation that is being tested
92
Q

How do you determine the expected value for chi-square?

A
  • ratio of the possibility x the number of test subjects
93
Q

How do you determine the observed value for chi- square?

A

its given

94
Q

How do you determine the DOF for chi- square?

A
  • # classes- 1
95
Q

What does it mean if the calculated chi-square value is greater than the critical value?

A
  • data is not consistent with hypothesis
  • reject hypothesis
96
Q

What does it mean if the calculated chi-square value is less than the critical value?

A
  • data is consistent with hypothesis
  • fail to reject hypothesis
97
Q

What is the chi-square formula?

A

x^2 = (observed-expected)^2 / expected

98
Q

How does environment determine sex?

A
  • temp where egg is incubated
  • proteins in sex determination pathways function differently based on temps
99
Q

What’s an example of how environment determines sex?

A
  • aromatase (testosterone to estrogen) activity is low at male temps and higher at female temps
  • warm= female
100
Q

How does climate change affect genetics?

A
  • warmer = more female sea turtles
101
Q

What is haplodiploid?

A
  • where males are haploids (unfertilized egg) and females are diploids
  • females must be heterozygous for a single multiple allele locus
  • means females can reproduce males on their own
102
Q

What type of sex determination do insects have?

A

haplodiplidy

103
Q

What is the xo/xx protenor sex chromosomes

A

1 = xx 1= x_
- sexes have different number of chromosomes
- ex = grasshoppers

104
Q

What are the xx/xy lygaeus mode chromosomes?

A
  • same number of chromosomes but one isn’t homologous
  • fruit flies and mammals
105
Q

What are homogametic organisms?

A
  • all gametes have the same chromosomes. (doesn’t mean same alleles)
    XX
106
Q

What are heterogametic organisms?

A
  • different chromosome types
  • xy
107
Q

What are homogametic organisms?

A
  • if you only have one allele to pass down
  • dads only pass x to daughters
108
Q

Why are some diseases more prevalent in XY?

A
  • because only 1 x so no masking, dads only pass down y
109
Q

What are zz/zw chromosomes?

A
  • zw = female
  • zz = male, homogametic
  • ex = birds, butterflies, some fish and amphibians
110
Q

What are pseudoautosomal regions?

A
  • regions of homology between x and y can allow for crossing over but no long exchange of info
111
Q

Where would you see pseudoatuosomal regions?

A

-during prophase 1 where x and y pair up

112
Q

What is the SRY gene?

A
  • codes for testes determination factor (TDF) which triggers undifferentiated gonadal tissue to form tissue
113
Q

What happens if there is no SRY present?

A
  • ovaries develop
114
Q

Where is non-disjunction the most common in humans?

A

sex chromosomes

115
Q

What are the types of non-disjunction in sex chromosomes?

A
  • XO
  • XXY
  • XXX
  • xyy
116
Q

What is a XO chromosome non-disjunction?

A
  • turner syndrome
  • no secondary female characteristics
  • 45 chromosomes
117
Q

What is the XXY chromosome non-disjunction?

A
  • klinefeller syndrom
  • male that has female secondary sex characteristics
  • 47 chromosomes
118
Q

What are the XXX and XYY chromosome non-disjunctions?

A
  • no phenotypic consequences until you go to reproduce
  • this is because Y doesn’t do much and the extra x can be turned off
119
Q

What is the Lyon hypothesis for dosage compensation?

A
  • inactivation of an x chromosome occurs randomly in somatic cells at some point in development.
  • once inactivated all progeny have the same X inactivated
120
Q

What is a Barr body?

A
  • inactivated X
  • not completely shut off (like 90% off)
121
Q

How many Barr bodies does the avg female have?

A

1

122
Q

How many Barr bodies does the avg male have?

A

0

123
Q

How many Barr bodies does someone with turner syndrome have?

A

0

124
Q

How many Barr bodies does someone with Klinefelter syndrome have?

A

1

125
Q

How do you test for x-linked genes?

A
  • reciprocal cross
126
Q

What is a reciprocal cross look like?

A
  • females always look the same in both variations but males always look like mom
127
Q

Do dad’s give an X to their sons?

A

no

128
Q

Is there a difference in an autosomal traits reciprocal cross?

A
  • no because reciprocal crosses only show sex- linked characteristics
129
Q

What do genetic counselors do?

A
  • work with parents concerned about inherited conditions
130
Q

What are the types of genetic counselors?

A
  • prenatal
  • pediatric
  • adult onset
  • cancer
131
Q

What do genetic counselors talk about?

A
  • diagnosis/ genetics/ inheritance abt disorder
  • symptoms and treatment options
  • risks and likelihood of having another child with disorder
  • social and psychological aspects of managing the disorder
  • assisting with finding support groups
  • typically non-directive
132
Q

What are prenatal genetic testing options?

A
  • ultrasound
  • fetal cell sampling diagnosis
  • preimplantation genetic diagnosis
133
Q

When is an ultrasound for genetic testing done?

A

20 weeks

134
Q

When is a maternal blood fetal protein DNA screening done?

A

10 weeks

135
Q

What is maternal blood fetal protein/ DNA screening?

A
  • buildup of proteins that are markers for abnormalities
  • cell/ free fetal DNA high throughout sequencing of fetal DNA fragments in moms blood
136
Q

Is a maternal blood fetal protein/ DNA screening diagnostic?

A

no

137
Q

What are the types of fetal cell sampling diagnosis techniques?

A
  • amniocentesis
  • chromic villus sampling
138
Q

When is amniocentesis preformed?

A

weeks 13-18

139
Q

When is chronic villus sampling done?

A

week 6

140
Q

What is amniocentesis?

A
  • more invasive
  • takes amniotic fluid
141
Q

What is chronic villus sampling?

A

takes cells from fetal part of placenta

142
Q

When would preimplantation genetic diagnosis be done?

A
  • in conjunciton with IVF
143
Q

When is most infantile genetic screening done?

A
  • during the newborn heel prick
144
Q

What are the types of genetic testing?

A
  • diagnostic testing
  • predictive and pre-symptomatic genetic testing
  • carrier testing
  • pharmocogenetic testing
  • research genetics
145
Q

What is diagnostic genetic testing?

A
  • identifies genetic condition or disease that is making or in the future will make a person ill
  • results can help with treatment and management
146
Q

What is predictive/ pre-symptomatic genetic testing?

A
  • finds genetic variations that increase a persons chance of developing a certain disease
147
Q

What is carrier genetic testing?

A
  • if people carry a gene that cause a disease
148
Q

Do carriers show any symptoms of the disease they could give to their child?

A
  • no
149
Q

What is pharmocogenetic testing and the use?

A
  • give info on how certain medicines are processed in a person’s body
  • gives info on what meds would work best to treat something
150
Q

What is research genetic testing?

A
  • tells scientists how genes contribute to health and disease as well as develop gene-based treatments
  • doesn’t always help participants but benefits future people
151
Q

What is the genetic information non-discrimation act?

A
  • health insurance companies can’t decrease coverage or increase rates based on genetics test
  • employers can’t discriminate bc of genetic tests
  • employers and insurance can’t require genetic testing
152
Q

What does a square mean on a pedigree?

A

male

153
Q

What does a circle mean on a pedigree?

A

female

154
Q

What does a triangle line mean on a pedigree?

A

dizygotic twins

155
Q

What does a tringle line with another line mean on a pedigree?

A

monozygotic twins

156
Q

What are most simple mendelian traits?

A
  • diseases
  • not traits like eye color or earlobes
156
Q

What is complete dominance?

A
  • one allelic form is expressed (dominant) and one isn’t seen (recessive)
157
Q

what does a double line or a star mean on a pedigree?

A

incest

158
Q

What is incomplete dominance?

A
  • intermediate to parents
  • purple + white= light purple
  • ONLY ONE GENE PRODUCT PRODUCED
  • varying amounts of the gene create the phenotype
159
Q

What is the incomplete dominance ratio?

A
  • 1:2:1
160
Q

What is codominance?

A
  • heterozygote expresses both alleles as distinct gene products
  • 2 functional genotypes
161
Q

What is the codominance ratio?

A
  • 1:2:1
162
Q

What is a recessive lethal?

A
  • animals with 2 copies of x die
  • can be dominant for a different trait and recessive for dealth
163
Q

What is a dominant lethal trait?

A
  • deadly if only one copy of the allele
  • makes it difficult to observe, only see if they don’t die before birth
164
Q

What is huntingtons?

A
  • recessive dominant
  • extra copies of CAG gene
  • shows anticipation
165
Q

What is anticipation?

A
  • increasing severity or earlier age of onset as the trait passes from generation to generation
  • individuals show symptoms earlier and progresses quicker
  • repeat grows more severe
166
Q

How do multiple alleles work?

A
  • more than 2 forms of same gene, each may be capable of producing a different phenotype
  • a diploid organism has 2 alleles at any locus, but may be many alleles in the population
167
Q

What is an allele series?

A
  • W>X>Y>Z
  • w dominant to everything
  • Y is dominant to z but recessive to x and w
168
Q

What type of trait is blood?

A
  • codominance
169
Q

What is penetrance?

A
  • percent of individuals of a given genotype that show some degree of expression of gene
170
Q

What is expressivity?

A
  • range of expression of a genotype
  • no numbers involved
  • just because you have the phenotype doesn’t mean you show it
  • ex. polydacty
171
Q

What factors influence a phenotype of a genotype?

A
  • modifying genes
  • imprinting
  • environmental (temp, nutrition, light)
172
Q

What are pleiotropic effects?

A
  • 1 gene has an effect on several seemingly unrelated aspects of someone’s phenotype
  • 1 gene affects the phenotype of several unrelated traits
173
Q

How does epistasis happen?

A
  • each gene specifies a different polypeptide product, these peptides determine the organism’s phenotype
  • different genotypes can lead to the same phenotype
  • it’s the interaction between 2 different genes (not between the alleles at one locus)
174
Q

Which gene is the epistatic gene?

A
  • gene doing the masking of the other
175
Q

What is single recessive epistasis?

A
  • homozygous recessive condition at one locus that masks or modifies the expression of alleles at the second location
  • aa creates white no matter what B is, if A we have to look at b
176
Q

What is single dominant epistasis?

A
  • if A is epistatic to be then A_ creates a result no matter what B is
  • a protein would be an inhibitor in this case and serves as a repressor that prevents conversion of precursor to intermediate
177
Q

What is a duplicate recessive epistasis?

A
  • identical phenotypes are produced by homozygous recessive so a different phenotype is only produced if there is at least 1 dominant of each locus
  • aa__ and __bb result in same phenotype no matter the genotype of the other locus
178
Q

What is duplicate dominant epistasis?

A
  • a dominant allele at either location gives us the same result
179
Q

What is dominant/recessive epistasis?

A
  • dominant at one locus and or homozygous recessive at the other locus results in the same phenotype
  • A__ and aabb result in same phenotype
180
Q

What is the difference between epistasis and dominance?

A
  • epistasis is the interaction between products of different genes
  • dominance is the interaction between different alleles at a particular gene
181
Q

What are complementation tests?

A
  • tests if two mutations are alleles of the same gene
  • want to cross to strains
  • mutations in same gene complementation doesn’t occur, mutations are alleles of the same locus and creates mutant phenotype
  • mutations in different genes complementation occurs and mutations aren’t alleles, creates proper phenotype
182
Q

What is a sex limited trait?

A
  • autosomal charecteristic that is only expressed in 1 sex or the other
183
Q

What is a sex influenced trait?

A
  • an autosomal trait that can be expressed in either sex but more fluent in one sex than the other
  • recessive in one gender but dominant in the other
184
Q

What is genetic maternal effect?

A
  • phenotype of offspring is determined by genotype of mother, not its own genotype
  • doesn’t impact dan only looks
185
Q

What is extranuclear/ cytoplasmic inheritance?

A
  • genes in mitochondria or chloroplast DNA and generally are passed down from only mother
  • does impact DNA
186
Q

What are characteristics of cytoplasmic traits?

A
  • only when eggs are laid externally
  • effects males and females
  • passed from mom to all offspring
  • reciprocal crosses give different traits
  • shows extensive phenotypic variation even within a family
187
Q

What are examples of extracellular DNA inherited through cytoplasmic organelles?

A
  • chloroplasts and photosynthesis
    = mitochondria and aerobic respiration
188
Q

What causes mitochondria diseases?

A
  • defects in bioenergetic function of cell
189
Q

What causes mitochondrial disorders variation?

A
  • 2 types of mitochondria in OG cell, mitochondria replicates then cell
  • by chance some daughter cells can end up with mostly defective mitochondrial DNA while others can end up with mostly normal mitochondria, varying scale
190
Q

What is the endosymbiotic theory for organelle origin?

A
  • based on observation that mitochondria and chloroplast DNA and the apparatus associated with their DNA function is similar to that of bacteria
  • many antibiotic resistance genes found in bacteria have been seen in DNA of mitochondria and chloroplasts
  • possible origin of organelles is that they were distinct bacteria-like organisms that became incorporated into primitive eukaryotic cells
  • symbiotic relationship developed through evolution so that each became dependant on others to survive
191
Q

What is genomic imprinting?

A

expression of a gene depends on whether its inherited from maternal or paternal side
- often one allele is expressed more highly than the other
- highly variable across tissues and throughout development
- many genes imprinted in clusters
- same genotype different phenotype based of imprinting

192
Q

What are epigenetic?

A
  • heritable changes in gene expression without changes in DNA
  • genetic imprinting is one form
193
Q
A

Genetics (4 decks)

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