TEST 3 Flashcards

(94 cards)

1
Q

codominance

A

heterozygote expresses both phenotypes of homozygotes at molecular level and above
(pigment/blood proteins)

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2
Q

XX XO sex determination

A

female XX
male XO,
male produces sperm of 2 types, ones with X one with none, which type fertilizes the egg determines the sex

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3
Q

XX XY sex determination

A

half of male gametes contain X or Y copy of the sex chromosome, which one fertilizes egg determines sex

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4
Q

pseudoautosomal regions

A

small homologous regions that carry the same genes linking X and Y chromosomes together
usually at tips of each

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5
Q

ZZ ZW females gametes

A

hetero, ZW

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6
Q

ZZ ZW male

A

homo, ZZ

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7
Q

ZZ ZW sex determination

A

half of eggs have Z or W chromosomes
All sperm contain Z chromosomes
which egg is fertilized determines sex

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8
Q

Genic sex determination

A

males and females are genetically identical,
genotypes at 1 or more loci determine sex of individual

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9
Q

Chromosomal sex determination systems

A

XX XO, XX XY, ZZ ZW

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10
Q

SRY gene

A

sex determining region Y
on Y chromosome
encodes protein TDF that initiates male sex determination

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11
Q

sex is controlled by what

A

individual genes
ex-SRY gene

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12
Q

environmental sex determination

A

environment determines sex
ex- turtles crocodiles alligators birds sex is determined by temperature during gestation

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13
Q

lethal alleles

A

when allele combo is lethal, individuals are missing from offspring scewing ratios

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14
Q

what indicates lethal alleles

A

2:1 ratio of phenotypes (should be 1:2:1, but offspring dies)

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15
Q

penetrance

A

percent of individuals with a genotype that expresses the phenotype
(person with polydactyl genotype has no extra fingers)

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16
Q

Expressivity

A

degree to which phenotype is expressed
( person has 10 extra fingers instead of 1 extra)

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17
Q

Barr body

A

inactivated x chromosome in nucleus

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18
Q

What is the correct number of inactivated X chromosomes

A

Only 1 x chromosome should ever be active, the rest no matter how many will be inactive

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19
Q

lncRNA XIST

A

has direct interaction inactivating X chromosomes

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20
Q

hemizygous

A

1 copy of chromosome
(X0 chromosome type)

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21
Q

what problem arises when cells dont regulate gene dosage

A

Due to the activation of more than 1 x chromosome, the genes normally expressed will be doubly expressed

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22
Q

sex influenced characteristsics

A

determined by autosomes

trait is dominant in 1 sex recessive in the other

expressed differently
between males & females
(male pattern baldness)

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23
Q

sex limited characteristics

A

encoded by autosomal genes

expression is limited to one sex

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24
Q

Morgan’s discovery of sex linkage

A

Looked at Red & White eyed drosophila

test crosses
white female x red male
red female x white male

determined white eyes was an X linked characteristic

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25
how is dominance between two alleles determined
you take two homozygotes of each allele, breed them into pure heterozygotes. Whichever phenotype is expressed shows the dominant allele
26
incomplete dominance
there is a mix between the two phenotypes
27
gene dosage
this refers to the inactivation of one x chromosome to correctly dose the amount of proteins expressed from x chromosomes
28
sex determining genes
genes that encode sex can be geneic or SRY gene= males
29
hint that trait isnt x linked
father passing on trait to a son (x chromosome of male doesnt pass on)
30
inheritance of organelle genetic information
all organelle genetic info comes from mother, as the egg contains all these, the sperm only carries its half of the genetic info
31
epistasis
gene that is influenced by more than 1 locus
32
Maternal effect embryonic lethal mutations
some phenotypes are determined solely by the mother. If the mother has a lethal mutation, her offspring will not survive, but she will be alive due to her own mothers phenotype not having her own mutation
33
imprinting
epigenetic changes to DNA, paternal allele is active protein product stimulates growth
34
dominant epistasis results
12:3:1
35
recessive epistasis results
9:3:4
36
complementation testing
Test determines if two recessive traits are on the same loci. 2 parents are with recessive traits are crossed If offspring are heterozygote and normal, then the 2 recessive traits are on different loci, as the dominant normal allele for the offspring will mask the recessive one if the offspring are still mutant then the recessive traits are on the same locus
37
max proportion of recombinant gametes
50%
38
frequency of recombinant gametes
half the frequency of crossing over
39
recombination frequency equation
(recombinant progeny/ total progeny) * 100
40
recombinant
new combination of alleles from parental alleles
41
nonrecombinant
parental combination of alleles
42
degrees of freedom for chi squared test for independence
(# of row-1) * (# of columns-1)
43
contingency table
2 of the same alleles in the column, the other 2 of the same alleles in the row total each row and column
44
how to get the values for chi squared test for independence
take each genotype possible. (row total*column total)/ grand total gives you your expected value. then do the chi squared test for each value
45
chi squared test
Σ ((O-E)^2)/E
46
expected results of max gene linkage
only non-recombinant genotypes
47
expected results of zero gene linkage
50% recombinant genotypes 50% non recombinant genotypes
48
expected results of some gene linkage
<50% nonrecombinant genotypes >50% recombinant genotypes
49
polyploidy definition & subcategories
autopolyploidy allopolyploidy has to many chromosomes
50
autopolyploidy
to many chromosomes from single species
51
allopolyploidy
to many chromosomes from two species
52
uniparental disomy
both chromosomes come from 1 parent
53
polypolyploidy effects on plants
larger cell size larger plant attributes gives rise to new species
54
karyotype prep
allow a cell to get to metaphase, treat with colchizine and hypotonic solution, exploding cell during metaphase. Grab chromosomes and dye
55
G bands- dark and light regions
dark regions-heterochromatin, rich in AT, replicates late in cell cycle light regions- euchromatin, rich in GC, replicates early in cell cycle
56
Anueploidy
1 or more individual chromosomes extra (2n+1)
57
Polyploidy
full sets of extra chromosomes (3n, 4n, 5n)
58
types of chromosome mutations
deletions, inversions, duplications, translocations
59
paracentric inversion
not including centromere
60
paricentric inversion
includes centromere
61
balanced translocation
no genetic material is lossed or gained. 1 segment of 1 chromosome is swapped with 1 segment of another chromosome
62
unbalanced translocation
genetic material is gained/lossed occurs when 2 acrocentric chromosomes create a large metacentric chromosome and a small discarded chromosome
63
psuedodominance
version of hemizygous loss of 1 allele of a gene. The remaining recessive allele is expressed due to this
64
duplication problems
duplicated region must loop out to align crossing over can create a chromosome with 2 copies of the same gene and 1 chromosome without any copies of that gene
65
haploinsufficiency
diploid organism has 1 functional copy of allele, however there isnt enough proteins expressed by the single allele to create a normal phenotype
66
paracentric inversions lead to what outcome
dicentric and acentric chromosomes, 3/4 unviable
67
pericentric invesrions lead to what outcome
all chromsomes have a centromere, however 3/4 are unviable
68
nullisomy
loss of 1 homologous pair of chromosomes (2n-2)
69
monosomy
loss of single chromosome (2n-1)
70
trisomy
gain of single chromosome (2n+1)
71
tetrasomy
gain of homologous chromosome (2n+2)
72
robertsonian translocation
fusion of 2 long arms and 2 short arms from 2 acrocentric chromosomes creating 1 large metacentric and 1 short metacentric
73
nondisjunction
failure to separate chromosomes into different cellular bodies during separation (mitosis meiosis 1&2)
74
nondisjunction in meiosis 1 products after fertilization
end result of meiosis=4 gametes .5 end up with an extra chromosome, after fertilization trisomy .5 end up with the loss of a chromosome, after fertilization monosomy
75
nondisjunction in meiosis 2 products after fertilization
.5 are normal diploid .25 are trisomic .25 are monosomic
76
nondisjunction in mitosis
one triploid and one monoploid cancerous
77
cis/coupling config
a+b+ ------ a b ------ test crossing with a homozygous recessive gives you mostly a+b+ and ab (homozygous)
78
trans/repulsion config
a+b ------ a b+ ------- test crossing w a homozygous recessive gives you mostly a+b and ab+ (heterozygous)
79
most regulated stage of gene expression
transcription
80
regulation of gene expression stages
-alteration of DNA structure -transcription -mRNA processing -translation -post translational modification
81
regulation of gene expression unique to eukaryotes
alteration of DNA structure mRNA processing
82
operon
group of bacterial structural genes that gets transcribed together
83
positive control
activator is used
84
negative control
repressor is used
85
lac operon gene expression control
negative inducible
86
inducible operons
transcription is normally off, must be turned on
87
repressible operons
transcription is normally on, must be turned off
88
constitutive
always on
89
regulated
on in certain circumstances
90
levels of transcription regulation
not all or nothing, rather levels of transcription go up and down
91
trp operon
negative repressible (signal is high levels of trp)
92
stochastic noise
even w/same environment and genes levels of gene expression differ randomly
93
catabolite repression of lac operon
when glucose levels are low, cAMP binds with CAP which stimulates the expresson of the lac operon when glucose levels are high, cAMP levels are low and dont bind with CAP which keeps the lac operon inactivated
94
linkage group
a set of linked genes at different loci on the same chromosome