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Test 1 Flashcards

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1
Q

what are the types of genetics

A

population
molecular
transmission

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2
Q

what is transmission genetics

A

how mutations are passed from one generation to the next, the basic principles of heredity, focuses on the individual organism, how gametes separate into probable individuals

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3
Q

what is a pedigree used for?

A

to figure out how a disease is transmitted

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4
Q

what is molecular genetics

A

the chemical nature of the gene, how genetic information is encoded, replicated, and expressed, focuses on the gene and its structure, organization and function

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5
Q

what is population genetics

A

the genetic composition of populations, how genetic composition changes geographically and with the passage of time, the focus is the group of genes found in a population, alleles in a population are used to figure out organisms in a population having a phenotype, population is the unit that evolves in biology

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6
Q

what is an SNP

A

single nucleotide polymorphism,

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7
Q

how can we use SNPs

A

see how populations evolved looking at these SNPs

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8
Q

what is genetics

A

the study of heredity and the variation of inherited characteristics, how characteristics are inherited from one generation to another and the mutations within it, it is a broad field

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9
Q

how did the study of genetics begin

A

with domestication of plants and animals, ancient jewish writing shows their was understanding of genetics of hemophilia, the ancient greeks had theories of inheritance

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10
Q

what were mendels main contributions

A

traits are passed from generation to generation, transmission of genetic information from parents to offspring, his word formed the foundation for genetics, looked at dominate and recessive traits

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11
Q

defintion of genetics

A

defined as the branch of biology concerned with the study of heredity and variation

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12
Q

how many genomes do we have in our cells

A

2 (one from mom and one from dad)

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13
Q

what is the law of segregation

A

during meiosis the 2 genomes segregate

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14
Q

what is the law of independent assortment

A

the probability of getting either trait is the same (they are independent of each other, nonhomologous chromosomes assort independently

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15
Q

what did mendel orginally term a gene as

A

zellemente - “cell elements”

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16
Q

who coined the word gene

A

Johannsen used it to describe mednelian units of heredity

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17
Q

what else was johannsen responsible for?

A

distinction between phenotype and genotype

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18
Q

what is a phenotype

A

the expression of the trait

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19
Q

what is a genotype

A

alleles in the gene that make the phenotype

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20
Q

what did sutton study

A

grasshopper meiosis and said that genes were located on chromosomes

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21
Q

what did boveri study

A

same as sutton but on sea urchins

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22
Q

what did sutton and boveri estabish

A

the chromosomal theory of inheritance

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23
Q

what is the chromosomal theory of inheritance

A

individual genes are found at specific locations on particular chromosomes, and that the behavior of chromosomes during meiosis can explain why genes are inherited according to mendels laws

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24
Q

what did morgan propose

A

that genes are on chromosomes like beads on a string, first discovered linkage, seperable units but connected on a chromsomes he also pionered drosophilia research

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25
Q

what did mendel disocver when showing how traits were passed from parent to offspring

A

it was not a straightforward way, it is dominance and recessiveness

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26
Q

what did the frederick griffith experiment show

A

bacterial transformation

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27
Q

how did the frederick griffith experiment work

A

when live non virulent strains and dead virulent strains were injected in the same mouse, the mouse died

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28
Q

what did Avery, MacLeod, Maclyn, and McCarty disocver and how

A

that DNA was the genetic mateiral, they injected proteanase and DNAase in mice witht the transforming strains and found that the mice lived when injected with the DNA so the DNA must be making all the instructions

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29
Q

what was the orignal but now incorrect term for a gene

A

one gene codes for one protein

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30
Q

why doesnt one gene code for one protien

A

there can be oberlapping strands that DNA is taken from, alternative splicing, non protein coding genes, different buidling blocks of given mRNA molecule can be located on different chromosomes, transgeneration epigentic inheritance, polycistronic mRNAs, trans splicing, alternatively spliced products with alternate reading frame

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31
Q

what is Dscam used for

A

brain development in drosophilia, can make many genes

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32
Q

miRNAs

A

dont make protein from them, help to irregulate gene expression

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33
Q

polycistronic mRNA

A

mRNAs that code for more than one protien

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34
Q

trans splicing

A

exons from 2 different primary RNA trasncripts are joined end to end and are ligated, 2 different genetic regions can make one protein

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35
Q

modern definiton of a gene

A

all of the continuous sequences of a nucleic acid (DNA or RNA) that makes a functional product

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36
Q

what must be true of a gene

A

must be able to aquire mutations, might be the unit of natural selection, regulatory genes are classified as gene associated elements

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37
Q

how are genes named

A

they are alwaysitalicized, if capital it is dominant, if lowercase it is recessive

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38
Q

how are human genes named

A

the entire gene is capatilized and italicized

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39
Q

classical genetics (forward)

A

If we begin by looking at the phenotype But not we are interested in learning what gene caused the phenotype  Classical genetics/ forward

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40
Q

reverse genetics

A

Looking at a gene and seeing what phenotype occurs when you break it  reverse genetics
use a nonfunctional version of the gene

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41
Q

what is gene knockout

A

making a target gene non fucntional and observing the outcome

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42
Q

good model organisms

A

easy to grow, short life cycle, produce many offspring, genetic analysis is strightforward, if they have a genome that is helpful

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43
Q

what is transgenic organisms

A

transferring genes between species

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44
Q

what is chromatin

A

complex of DNA (and sometimes RNA) and proteins (histones)

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45
Q

how much DNA is in every cell

A

3 feet

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46
Q

how is DNA packaged

A

histones

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47
Q

how many molecuels of DNA are in an unreplicated chromosome

A

1

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48
Q

how many molecules of DNA are in a replicated chromosome

A

2

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49
Q

what is the centromere

A

made of DNA, has specific ATCG sequences, microtubules stick here so chromosomes can be moved around during mitosis and meiosis, it is not always in the middle

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50
Q

what are the arms on a chromosome

A

p and q arms

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51
Q

what is a p arm

A

smaller

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52
Q

what is a q armm

A

longer

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53
Q

metacentric chromosome

A

centromere location is in the center so no p or q arms

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54
Q

submetacentric chromosomes

A

centromere location is between middle and end

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55
Q

acrocentric chromosome

A

centromere location is very close to the end, very small p arms

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56
Q

telocentric chromosome

A

centromere location at the end, only q arms

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57
Q

monocentric chromosome

A

1 centromere, what humans have

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58
Q

holocentric chromosome

A

has multiple centromere attachment sites, the whole chromosome is basically a centromere, what arachnids have

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59
Q

somatic cells

A

body cells

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60
Q

germ cells

A

sperm and egg cells, cells carrying onto the next generation

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61
Q

what cells does meiosis take place in

A

germ cells

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62
Q

somatic cells have what types of chromosomes

A

homologous chromosomes

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63
Q

how many chromosomes do humans have

A

46 chromosomes (23 homologous pairs)

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64
Q

homologous chromosomes

A

same chromosomes, same genes, same length, but 2 copies of the same chromosome one from mom and one from dad, may or may not have the same alleles

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65
Q

diploid

A

2 copies of each chromosome in your cell

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66
Q

genome

A

all the genetic infromation in haploid set

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67
Q

how many genomes in a human cell

A

2 (one from mom, one from dad)

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68
Q

how many chromosomes in the human genome

A

23 chromosomes in the human genome

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69
Q

what is each gene site on a chromosome

A

locus

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70
Q

biparental inheritance

A

inheritance from 2 parents, diploid organism

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71
Q

sister chromatid

A

2 molecules of DNA in one chromosome

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72
Q

centrioles

A

cytoplasmic bodies located in the centrosome, made of tubulin, is a rope to pull the chromosomes apart

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73
Q

spindle fibers

A

Composed of microtubules consisting of polymers of protein tubulin.
Play important role in movement of chromosomes as they separate during cell division.

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74
Q

what is a centrosome made of

A

centrioles

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75
Q

what are the 2 main parts of the cell cycle

A

interphase

m phase

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76
Q

mitotic phase

A

mitosis

cytokinesis

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77
Q

interphase

A

cell growth and copying of chromosomes in preparation of cell division

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78
Q

subphases of interphase

A

G1, S, G2

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79
Q

G1

A

growth

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80
Q

S

A

synthesis, replicate the chromosomes

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81
Q

G2

A

putting things together for mitosis

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82
Q

cyclins

A

makes decisions on when a cell goes through the stages, molecules that control a cellular clock, control progression of the cell cycle, these are expressed cyclically to initiate different portions of the cell cycle

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83
Q

what do cyclins activate

A

cyclin dependent kinases

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84
Q

what do Cdks do

A

cyclin binds to them causing it to phosphorylate another target

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85
Q

which cyclin is always on

A

D

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86
Q

which cyclin turns on to go from G1-S

A

E

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87
Q

which cyclin turns on to go from S-G2

A

A

88
Q

which cyclin turns on mitosis

A

B

89
Q

what is the hidden stage of the cell cycle

A

G0 phase

90
Q

example of a cell in G0

A

nuernons

91
Q

what is G0 phase

A

for cells not preparing for mitosis, outside of the replicative cycle

92
Q

quiescent cells

A

reversible, can leave G0

93
Q

example of quiescent cells

A

stem cells

94
Q

senescent cells

A

irreversible, stay in G0, be due to stress or damage, telomere shortening, cell that we keep eve if damaged, don’t want the cell to reproduce but want it to do its job

95
Q

differentiated cells

A

irreversible, stay in G0 and performs their functions

96
Q

what is interphase characterized by

A

the absence of visible chromosomes, it is 90% of the cell cycle

97
Q

events during G1

A

cell growth, preparation of chromosomes for replication, synthesis of histones,

98
Q

what can the cell do after G1

A

continue onto S phase or stop the cell cycle and go into G0

99
Q

Check point in G1

A

R point or restriction point

100
Q

what happens at the G1 restriction point

A

checks the cell to make sure it is good enough to move on in the cell cycle, decides if it is going to go to G0

101
Q

what are mitogens

A

signaling protein that is needed to induce a cell to undergo mitosis, proteins from other cells that tell the cell to to go through mitosis, how the cells comunicate

102
Q

what controls G1-S

A

cyclin E

103
Q

What cyclin maintains S phase

A

cyclin A

104
Q

main thing that happens in S phase

A

chromosomes replicate

105
Q

what holds the sister chromatids together

A

cohesin

106
Q

when is cohesin formed

A

during S phase

107
Q

how does cohesin keep the chromatins together

A

makes a ladder between the chromatids

108
Q

what happens in G2

A

check to make sure DNA integrity is there, double stranded breaks are fixed, DNA must be intact before going through m phase

109
Q

how does the cell know to go from G2 to mitosis

A

high expression of Cyclin B

110
Q

checkpoints in G2

A

DNA damage checkpoint right before Mitosis

111
Q

DNA damage checkpoint

A

makes sure the chromosome is okay to go through and then increases Cylcin B alot

112
Q

Prophase

A

decrease cyclin B and D
chromatin condenses
centrosomes move to opposite poles
formation of mitotic spindle

113
Q

what is a centrosome

A

collection of 2 centrioles

114
Q

metaphase

A

middle
chromosomes align on the metaphase plate
kinetechores attack to the to the centromsomes and are equally aligned

115
Q

kinetechore

A

anchor that attached to centromere

116
Q

what breaks down cohesin so the chromatids can seperate

A

seperase

117
Q

how do we keep the cohesin that we want protected from seperase

A

shugoshin protects it

118
Q

how many subphases are there in anaphase and what are they

A

2

a and b

119
Q

anaphase a

A

pushes away to either side of the cell

120
Q

anaphase b

A

pulled apart at the opposite ends, forced in multiple points

121
Q

telophase

A 
effects of prophase are reversed
nuclear envelope reassembled 
nucleoli reappear 
mitotic spindle chomped up 
cyclin destroyed
122
Q

what type of division is meiosis

A

reductional divison

123
Q

how many rounds of cell division in meiosis

A

2

124
Q

aneuploidy

A

error in cell division, wrong number of chromosomes

125
Q

what does haploid mean

A

1, one whole genome

126
Q

interkinesis

A

stage between meiosis 1 and meiosis 2, resting stage preparing for meiosis 2

127
Q

what happens during interkinesis

A

the spindle in meiosis 1 disassembles and new microtubules assemble for meiosis 2

128
Q

bivalent

A

pair of 2 homologous chromosomes in prophase 1

129
Q

tetrad

A

the four sister chromatids found between them

130
Q

general goal of meiosis 1

A

seperate homologous chromosomes

131
Q

prophase 1 phases

A 
leptotene 
zygotene 
pachytene 
diplotene 
diakinesis
132
Q

leptotene

A

the individual duplicated chromosomes condense into long thin threads from diffuse chromatin, telomeres have DNA sequences allowing them to attach to the inside nuclear envelope of the nucleus, anchor to the nucklear membrane wall base pair with homologous chromosomes counter parts so they can find eachother, how the homologous chromosomes find their pair

133
Q

zygotene

A

the chromosomal pairing stage, chromosomal synapsis occurs here; synaptoenamal complex which allows for synapsis forms,

134
Q

synapsis

A

interlocking of the base pairs of the 2 chromosomes

135
Q

synaptonemal complex

A

is a lot of proteins forming a ladder that attaches the 2 homologous chromosomes together

136
Q

pachytene

A

the bivalent forms, crossing over occurs, swapping strands and DNA, complex between chromosomes from mom and dad

137
Q

diplotene

A

the synaptonemal complex degrades; homologous chromosomes seperate a little, but are still bound

138
Q

diakinesis

A

chromosomes are at their most condensed nucleolus disappears, nuclear envelope disappears; centrioles move the equator

139
Q

where are chromosomes at their most condensed

A

diakinesis

140
Q

metaphase 1

A

at the end of prophase 1, the centromeres are lined up at the equitorial plate, chromomses are at maximum shortness and thickness, terminak chiasmata holding non sister chormatids together, they are all the way separated,

141
Q

anaphase 1

A

homologous chromosomes seperate, a balance between puishing and pulling forces on the microtubules

142
Q

how do molecules stay intact during anaphase

A

cohesin

143
Q

when does disjunction occur

A

anaphase 1

144
Q

what is disjunction

A

half of the tetrad is randomly puled to opposite poles

145
Q

what is nondisjucntion

A

may occur- separation not achieved

146
Q

telophase 1

A

reappearance of nuckear membrane around dyads, nucleus enters into short interphase period, chromomse do not replicate since they already consists of sister chromatids interkinesis occurs afterwards

147
Q

what happens in meiosis 2

A

same as mitosis

148
Q

what type of genetics did mendel study

A

transmission genetics

149
Q

what is a monohybrid cross

A

cross of only one pair of contrasting traits

150
Q

true breeding

A

the individuals of the traits are homozygous

151
Q

P1 generation

A

original parents

152
Q

F1 generation

A

offspring

153
Q

F2 generation

A

offspring of F1 generation crossed

154
Q

testcross

A

detemrines if the individual displaying dominant phenotype is homozygous for heterozygous for that trait, always suses homozygius recessive indivual with unknown genotype individual

155
Q

AA x aa

A

100% will be Aa

156
Q

Aa x Aa

A

1:2:1

157
Q

Mendels Initial 3 Postulates

A

Unit factors in pairs
Dominance/recessivness
Segregation

158
Q

unit factors in pairs

A

genetic charcters are controlled by unit factors (genes) existing in pairs in individual organisms

159
Q

dominance/recessiveness

A

pair of 2 unlike unit factors (genes) for single characterisitc in individual one unit factor dominant, the other recessive

160
Q

segregation

A

paired unit factor (genes) segregate (seperate) randomly during gamete formation

161
Q

dihybrid cross

A

two factor cross, mendel studied inheritance of 2 traits simultaneously, crossing involing two pairs of contrasting traits –> generates unique F2 ratio

162
Q

YyRr x YyRr

A

9:3:3:1 phenotypic ratio

163
Q

mendels fourth postulate

A

independent assortment

164
Q

independent assortment

A

2 monohybrid crosses with the traits inherited independently

165
Q

when does unit factors in pairs occur

A

first meiotic prophase

166
Q

when does segregation of unit factors during gamete formation

A

first meiotic anaphase

167
Q

when does independent assortment of segregating unit factors occur

A

follows many meiotic events

168
Q

law of segregation is when

A

anaphase 1

169
Q

what do you do to predict genotypes of multiple hybrid crosses

A

product law

170
Q

what do you do to preduct phenotypes

A

sum law

171
Q

what is the longest phase of meiosis

A

prophase 1

172
Q

primary vs secondary sex determination

A

primary is the genetic sex that determines the identity of the gonads
secondary is the establishment of testes or ovaries, antlers and beards etc.

173
Q

how many tubes do embryos start with

A

2

174
Q

what happens to the duct systems in embryos

A

the wolfian ducts go away if its a female, and the mullerian ducts go away if its male

175
Q

what chromosome houses the maleness genetic information

A

Y

176
Q

How to all embryos start out

A

females

177
Q

when do the gonads begin to differentiate ovaries or testes

A

5th week

178
Q

what are the bipotential gonads

A

gonads that turn to either ovaries or testes

179
Q

what does the Y chromosome carry

A

SRY gene

180
Q

what does the SRY gene do?

A

organizes the bipotential gonads into testes

181
Q

what are PARs

A

parts of the sex chromosomes near the telomeres that have genes that are inherited in an autosomal fashion

182
Q

how does dosage compensation help mammals

A

prevents excessive expression of x linked genes in mammals

183
Q

What are barr bodies

A

they are inactivated x chromosomes

184
Q

why do we have barr bodies

A

genetic mechanism that compensates for X chromosomes dosage disparities

185
Q

how can an SRY be on an X chromosome

A

due to pars it can possibly translocate onto the X chromosome

186
Q

dosage compensation

A

how we turn off the extra X chromosome

187
Q

what is the XIC

A

x inactivation center

188
Q

important genes housed on the XIC

A

xist gene and the Tsix gene

189
Q

how do the xist and tsix gene work together

A

the x chromosome chosen for inactivation turns on the xist gene and the opposite one turns on tsix

190
Q

how is sex determined in drosophila

A

x is male, XX is female, if its 3 sets of autosomes to 2 x chromosomes then it is mosaic

191
Q

what is the genetic balance theory

A

when the threshold of maleness is reached by a 1X:2Autosome ratio

192
Q

what are the sexual phenotypes of c elegans

A

males and hermaphrodites

193
Q

what distinguishes a male c elegan

A

one testes, has only one x chromosome no y

194
Q

what distinguishes a hermaphordite c elegan

A

both testes and ovaries, 2 x chromosomes no Y

195
Q

majority of offspring in c elegans

A

hermaphorites, less than 1% are male

196
Q

what is the homogametic sex in bird

A

males who are ZZ

197
Q

what are is the female genotype in birds

A

ZW

198
Q

in birds what determines if the embryo will be male or female

A

egg

199
Q

what is weird about platy[usses

A

5 x and 5 ys

200
Q

what is the system of a platypuss called

A

monotreme system

201
Q

what is haplodiploid sex determination

A

the sex is based off if the embryo is fertilized, not fertilized then it is haploid and a male, if it is fertilized then it is diploid and a female

202
Q

what is special about reptile sex detemrination

A

temperature dependent

203
Q

what is temperature dependent sex determination

A

certain enzymes are affected by temperature, temperature of the outside environment determines if the developing embryo is male or female

204
Q

what is case 1 for temperature dependent sex determination

A

low temp=females

high temp=males

205
Q

what is case 2 for temperature dependent sex determination

A

low temp=males

high temp=females

206
Q

what is case 3 for temp dependent sex determination

A

high and low temp=females

middle=males

207
Q

what is the critical period of incubation known as when it comes to temp dependent sex determination

A

thermosensitive period

208
Q

what is the main enzyme that deals with temp dependent sex determination

A

aromatase

209
Q

what does aromatase do

A

converts androgens (male hormones) to estrogens at certain temps

210
Q

what is sex limited inheritance

A

expression of a specific phentpype is limited to one sex, involving genes not on the X or Y chromosomes

211
Q

what is sex influenced inheritance

A

sex of individual influences expression of phentoype not limited to one sex, involving genes not on the X or Y chromosmes

212
Q

how does the sex limited inheritance in chickens works

A

feathers in chickens are caused by an autosomal gene, hen feathering controlled by a dominant allele expressed in both sexes, male feathering controlled by recessive allele only expressed in males but the actual expression is modified by the individuals sex hormones, you must have 2 copies of the recessive allele and male to get the cocked feathers

213
Q

sex influenced inheritance with baldness

A

the allele for baldness behaves as a dominant gene in males and ressive in females, females must be BB to be bald but males can be BB or Bb

214
Q

what is white eye color in drosophila knwon as

A

x linked and recessive trait

215
Q

what is an x linked trait

A

it is only carried on the X chromosome and it is recesive so you must have 2 copies to inherit the trait in females, males will only need one copy

Genetics (4 decks)

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