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Genetics 2 Flashcards

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1
Q

p arm

A

short arm

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2
Q

secondary sex ratio

A

reflects proportion of each sex born

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3
Q

unambiguous

A

each triplet specifies only one amino acid

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4
Q

inversions

A

rearrangement of linear gene sequence
no loss of genetic information

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5
Q

shine-dalgarno sequence (AGGAGG)

A

prok only
precedes AUG
small ribosome bind to it

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6
Q

monozygotic

A

identical twins
derived from single zygote
variance is caused by environment

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7
Q

pseudo autosomal region (PARs)

A

present on both ends of Y chromosomes
synapse and recombine with X during meiosis

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8
Q

polygenic

A

varying phenotypes result from input of many genes (ex. orchestra)
continuous variation in phenotype
ex. height in humans

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9
Q

dizygotic

A

fraternal twins
derived from two separate fertilization events
environmental and genetic variance

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10
Q

edwards syndrome

A

trisomy 18
lethal after a year

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11
Q

translocation of chromosome 21

A

familial down syndrome
translocation of chromosome 21 use image

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12
Q

map unit (centi-morgans)

A

relative distances
frequencies between linked genes are additive
use images
do practice problems

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13
Q

aneuploidy

A

variations in chromosome numbers
gains or loses one or more chromosome (not entire set)

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14
Q

Marin-Bell syndrome (fragile-X syndrome)

A

common form of retardation and cancer

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15
Q

linked gene can undergo independent assortment

A

false

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16
Q

threshold traits

A

diabetes in humans
dam example

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17
Q

triploid

A

three sets of chromosomes
3n

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18
Q

cri du chat syndrome

A

deletion of small terminal part of chromosome 5 (p region)
high voice

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19
Q

trisomy

A

gain of single chromosome
2n+1
often lethal
plants are viable

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20
Q

ribosome sizes

A

prok: 50s + 30s = 70s
euk: 60s + 40s = 80s

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21
Q

monosomy

A

loss of single chromosome
2n-1
don’t make it past first few cell divisions
factory key example

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22
Q

broad-sense heritability

A

entire range of genetic factors
genetic and environmental

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23
Q

linkage ratio

A

linkage between two genes due to proximity
the closer the genes, the more of a link
independent assortment >50cM

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24
Q

secondary structure

A

folding
alpha helix (right hand rotation)
beta sheet (antiparallel strands)
both are held together by H bonds

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25
adjacent segregation
leads to gamete containing duplication and deficiencies offspring usually don't survive
26
endopolyploidy
condition where only certain cells in diploid organisms are polyploid occurs in cancer cells
27
overlapping genes
viruses single mRNA has multiple initiation points
28
linkage group
genes that tend to be inherited together
29
genetic anticipation
number of trinucleotide repeats carrier status: 55-230 repeats syndrome status: >230 repeats (fragile X)
30
Duplications
repeated segments of chromosome arise from unequal crossing over (use image) results: gene amplification phenotypic variation evolution
31
tRNA contains what special base and amino acid binds to what end
inosinic acid 3' end
32
intrinsic termination
loop and poly U tail
33
closed loop translation
mRNA forms loop that is closed where cap and tail meet increases efficiency
34
primary structure
sequence of amino acids
35
polysomes/polyribosomes
mRNA with several ribosomes translating at once
36
how many genes on Y chromosome
50 genes
37
degenerate
a given amino acid can be specified by more than one triplet codon
38
Turner syndrome
One X phenotypically female basic ovaries underdeveloped breast short and dumb
39
EPA complex
exit parking arrival
40
primary sex ratio
reflects proportion of males to females conceived in population
41
patau syndrome
trisomy 13 lethal after a year
42
narrow-sense heritablity
focuses solely on additive genotypic variance
43
euploidy
complete haploid sets
44
Dosage compensation
balances dose of X chromosome expression in males and females barr bodies
45
intercalary deletion
interior of the chromosome
46
Jacobs syndrome
47, XYY tall males dumb personality disorders
47
Y chromosome in humans
determines maleness
48
silent mutation
mutation in third nucleotide of codon doesn't appear because same amino acid is used
49
bar mutation in drosophila
duplication causes phenotypic variations flies have narrow, slit eyes mutation is inherited
50
homogametic sex
producing like chromosomes zygote with two X chromosomes **female** offspring
51
coding strand
same as mRNA but replace T with U
52
post-translational modification
removal of methionine individual amino acids modified side chains added polypeptide chain trimmed signal sequence removed complexed with metals
53
amphidiploid
an allotetraploid where both original species are known plants cotton plant
54
quaternary structure
contains more than one polypeptide chain not every protein has this
55
mRNA processing
5' cap (bind 5' to 5', protection) 3' tail (controls lifespan) splicing (introns leave, exons stay)
56
protein folding
dependent on chaperones if miss fold occurs, labeled with ubiquitin
57
allopolyploid
hybridizing two closely related species hybrid is often sterile not homologous, meiosis does not occur mule
58
phenotypic dimorphism
a physical presentation of 2 types within a species (male and female ducks)
59
lyon hypothesis
x chromosome inactivation is random occurs in somatic cells calico cats and fur color
60
alternate segregation
segregation pattern at first meiotic division has complete complement of genetic information
61
heterogametic sex
producing unlike chromosomes zygote with one x and one Y **male** offspring
62
compensation loop
syanpsis between normal chromosome and chromosome with deletion use image
63
lygaeus sex determination
XX/XY
64
gene redundancy
sometimes necessary need rRNA in large quantities
65
bipotential gonads
gonadal ridges that can form ovaries or testes
66
nondisjuntion
chromosomal variation paired homologs fail to disjoin can occur during meiosis 1 or 2
67
polyploidy
more than two sets 3n, 4n, 5n, ...
68
Male specific region (MSY)
contains SRY (sex determining region) encodes for TDF (testis-determining factor)
69
robertsonian translocation chromosomes 14/21
breaks at extreme ends of short arms of 2 nonhomologous acrocentric chromosomes small segments are lost ex. familial down syndrome
70
Down syndrome critical region (DSCR)
critical region of chromosome 21 genes are dosage sensitive
71
nonsense mutation
mutations that produce a stop codon internally in a gene "talking nonsense, stop talking"
72
paracentric inversion
does not change length of two arms centromere not part of inversion
73
peptide bonds
dehydration reaction between carboxyl group and amino group
74
polygene
use notes
75
testis-determining factor (TDF)
6-8 weeks of development, SRY becomes active encodes protein that trigger testes
76
allotetraploid
polyploid contains equivalent of four haploid genomes derived from separate species original species unknown
77
gonadal primordia
tissues that will form the gonads
78
Klinefelter syndrome
XXY large body internal ducts are male, testes fail to produce sperm female development not suppressed
79
autopolyploidy
each identical set of chromosomes is identical to parent species multiples of the same genome (4n, etc) causes: diploid gamete is produced two sperm fertilize one ovum (rare)
80
down syndrome
trisomy of chromosome 21 caused by nondisjunction ovum is source of 95% of trisomy cases
81
aminoacyl
enzyme that adds amino acid to tRNA 1:1 ratio
82
pericentric inversion
centromere is part of inverted segment does change lengths of arms
83
gene duplication's role in evolution
major source of new genes humans have 4 SRGAP2 genes, other primates have 1, larger brains and cognitive ability
84
nonoverlapping
any single ribonucleotide within mRNA is a part of one triplet
85
tertiary structure
three dimensional conformation protein is now functional
86
stop codons
UAA, UAG, UGA
87
template strand
transcribed by RNA polymerase reads 3' to 5'
88
frameshift mutations
nucleotide is added or removed affect codons downstream
89
heteromorphic chromosomes
X and Y chromosomes
90
multifactorial or complex traits
result of both gene action and environmental influences
91
sex ratio
actual proportion of male to female offspring
92
inversion loop
use image
93
reciprocal translocation
exchange of segment between two non-homologous chromosomes
94
Protenor sex determination
butterfly XX/XO female has 2 X male has 1 X
95
autotetraploid
chromosomes replicate but cell never divides chromosome number doubles experimentally induced by colchicine
96
gene amplification
used by embryo in early development for rRNA synthesis Oocytes store nutrients
97
proteosome
degrades miss folded proteins that are marked with ubiquitin chain
98
deletions
missing regions of chromosome
99
translocation
movement of chromosomal segment to new location in the genome
100
human karyotype
22 autosomes, 2 sex chromosomes
101
translation termination
stop codon doesn't have amino acid release factors add water to end of polypeptide chain
102
Rho-dependent termination
Rho bonds to Rut site Rho catches up after kink and breaks RNA-DNA link
103
chiasmata
point of genetic exchange the point of cross in crossing over use image
104
amino acid characteristics
nonpolar (hydrophobic) polar (hydrophilic) positive (basic) negative (acidic)
105
linked genes cannot undergo independent assortment
true
106
barr bodies
inactive X chromosome, highly condensed random inactivation early in development dark spot during interphase N-1 rule
107
multiple-gene hypothesis
additive and nonadditive alleles greater number of additive alleles=more gene expression use image
108
three point mapping
use notes
109
amino acid structure
carboxyl group amino group R group (determines type of acid) alpha carbon
110
meristic traits
phenotype can be recorded by counting whole numbers ex. eggs laid
111
Transcription in eukaryotes
promoter (TATA box) enhancers and silencers upstream RNA poly 2
112
ratio biases
more males than females male sperm have less mass better swimmers
113
X-inactivation
explains dosage compensation N-1 rule 15% escape inactivation
114
q arm
long arm
115
spliceosome
understand process use image
116
Heritability estimate
gives proportion of phenotypic variation attributed to genetic variation within a population in a particular environment
117
terminal deletion
near end
118
triplo-X
three x chromosomes normal autosomes women have underdeveloped sex characteristics
119
fragile site
more susceptible to chromosome breakage site indicated by regions of non-tightly coiled chromatin rigions rich in A
120
start codon
AUG
121
commaless
once translation begins, codon are read with no breaks
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