Topic 2 Flashcards

(57 cards)

1
Q

mendels first law

A

alleles of a single gene segregate independently from each other

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2
Q

mendels second law

A

alleles of different genes segregate independently of each other

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3
Q

homologs cross over when

A

prophase 1

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4
Q

meiosis produces what chromatids at the end

A

4 chromatics all different

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5
Q

humans have how many pairs of chromosome

A

23

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6
Q

what cellular mechanism dictates inheritance patterns

A

meiotic shuffling of chromosomes

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7
Q

reappearance of a mutant in F1 usually means what

A

the its connected to “maleness”

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8
Q

in sex linked genes, hemizygous genotype (male) in F1 will show what

A

the recessive phenotype

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9
Q

chromosomes first name

A

unit of segregation

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10
Q

deletion of SRY causes _______ in XY individuals

A

femaleness

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11
Q

non disjunction events

A

mechanistic defects in cell devision resulting in an abnormal amount of chromosomes

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12
Q

x linked excessive genes affect only

A

males (mostly)

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13
Q

for an x linked recessive gene, if th mother is affected, what are the sons

A

all affected

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14
Q

for X linked recessive, if a man is affected, do his sons and daughters get affected

A

no

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15
Q

when calculating probability for colour blindness what do you need to take into account

A

chances of inheriting the defective allele but also of being male

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16
Q

are there carriers in X linked dominant diseases

A

no

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17
Q

X link dominant traits are more male or female

A

female but a good mix of both

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18
Q

signature of X linked dominance inheritance

A

when the father is affected, all the daughters will be too but no sons

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19
Q

cytogenetics

A

geneticists use stains to identify specific chromosomes and to analyze their structures

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20
Q

do normal chromosome results indicate a genetically normal individual

A

no

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21
Q

aneuploidy

A

when one or more chromosomes are missing g or in excess

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22
Q

if a plant plant has a higher policy than another, what will it look like

A

look the same but be bigger

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23
Q

autopolyploid

A

all the chromosomes originated from the same organism

24
Q

allopolyploid

A

one set of chromosomes originated from one organism and the other from another

25
when thinking about the consumer, what kind of policy change would you want? allopolyploidy or autoploidy
autoploidy
26
how are autopolyploids generated (2)
naturally occuring induced In the lab
27
how are allopolyploids generated
naturally or in the lab through hybridization
28
to become polyploid, cells _________, but do not divide
replicate their DNA
29
are aneuploidys caused genetically
no - they are meiotic errors
30
do human monosomies live
no
31
klinefelter syndrome and down syndrome are examples of what
trisomies
32
turner syndrome genotype
XO
33
klinefelter syndrome genotype
XXY
34
down syndrome is also called
trisomy 21
35
_______ is often tolerated _______ is often harmful (aneuploidy and polyploidy)
polyploidy aneuploidy
36
too much transcription (trisiomies) as well as too little (monosomies) are equally problematic, as they
disturb the relative amounts of proteins needed to correctly perform a given function
37
smallest chromosome in humans
chromosome 21
38
trisomies or monosomies of chromosome _____ are always embryonic lethal
1
39
is imbalance of the Y or the X chromosome worse for fertility
Y chromosome
40
do male cells ever silence their X chromosome
no
41
lack of what causes non-disjunction in the first meiotic division
lack of crossovers
42
what doesn't separate in non-disjunction
homologs
43
defect in ________ _________ causes non-disjunction in the second meiotic division
chromosome cohesion
44
non disjunction events are usually maternal or paternal
maternal
45
when do non-disjunction events happens most frequently
meiosis 1
46
only predictive factor for trisomies
age of the mother
47
oocytes are arrested in what in the mothers ovaries
meiosis 1
48
unbalanced chromosomal rearrangement
changes result in loss or gain of genetic material that leads to gene dosage problems or chromosome instability
49
balanced chromosome rearrangement
changes do not result in gain or loss of genetic material and dosage is not affected
50
whats an example of a balanced chromosome
monocentric (bipolar attachment)
51
examples of unbalanced rearrangements (2)
dicentric (multipolar attachement) acentric (no attachment)
52
pseudodominance
recessive alleles appearing as dominant due to a deletion or rearrangement of dominant allele
53
most common chromosomal rearrangement in humans
translocation
54
reciprocal chromosome
viable and undetected chromosome after rearrangement
55
robertsonian translocation
result from breakpoints in telomeres of acrocentric chromosomes and incorrect repair (viable)
56
heritable translocation of Down syndrome is caused by which chromosome translocation
21 and 14
57
units of segregation
chromosomes