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Genetics > Exam 1- My Q's > Flashcards

Exam 1- My Q's Flashcards

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Biology 101 flashcards
1
Q

What does each chromosome have that distinguishes them from others?

A

a characteristic centromere position and unique length and shape

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2
Q

karyotype

A

display of the chromosome complement of a cell or individual

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3
Q

homologous chromosome pair

A

same length, shape, centromere position, identical genetic potential, not genetically identical

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4
Q

How many autosomes do humans have

A

22

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5
Q

why can sex chromosomes interact even though they are different sized and shaped

A

can behave as homologous because of their pseudoautosomal regions

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6
Q

haploid or diploid?
egg
zygote
adult

A

egg: n
zygote: 2n
adult: 2n

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7
Q

What are germ cells?

A

they are cells in the sex organs testis and ovaries that can divide my meiosis to produce gametes

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8
Q

Key words for prophase 1
metaphase 1
anaphase
telophase

A

prophase: crossing over, condensation, synapsis (pairing of homologous pairs)
metaphase: line up at equator of cell
anaphase: disjunction
telophase: splitting cell into 2, cleavage

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9
Q

What are the results of prophase 1

A

4 chromatids- tetrad

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10
Q

where and when does crossing over happen?

A

chiasma during prophase 1

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11
Q

what are chromosomes like in prophase 1

A

consist of 2 sister chromatids. still attached

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12
Q

what is the main event of phase 1 and 2 of meiosis

A

phase 1: reduces ploidy of original germ cell from diploid to haploid
phase 2: recombines genetic info further now that chromosomes have crossed over

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13
Q

disjunction, what is it when does it happen

A

movement to opposite poles in cell, anaphase I and II

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14
Q

What is the difference between telophase 1 and 2

A

in telophase 2 the chromatids are mosaic, mixed info between mom and dad

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15
Q

What is the final result of meiosis phase 2

A

4 genetically unique daughter cells

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16
Q

how many cells mature in spermatogenesis vs oogenesis

A

sperm: 4
ovum: 1

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17
Q

What are mendel’s 3 proposals

A

1: there are recessive and dominant traits
2: there are unit factors or genes that are passed from parent to offspring. these unit factors exist in alternative forms
3: 2 alleles segregate during gamete formation, there is an equal probability that a gamete receives 1 allele from each gene

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18
Q

What is mendel’s 4th proposal

A

segregating pairs of alleles assort independently from one another.

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19
Q

Autosomal recessive inheritance

A

the trait appears in progeny of unaffected parents. appears equally in both sexes

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20
Q

Autosomal dominant inheritance

A

trait almost always appears in each generation, usually at least 1 affected parent. more common in heterozygotes than homozygotes

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21
Q

wildtype allele

A

most common phenotype, usually dominant

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22
Q

mutant allele

A

has a mutation, usually recessive

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23
Q

polymorphic allele

A

more than 1 wildtype allele of a given gene that coexist

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24
Q

haplosufficiency

A

when a single functional allele is sufficient to bring about a function

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25
Q

complete dominance

A

an allele is expressed whenever present

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26
Q

incomplete dominance

A

neither allele is fully dominant, forms a new intermediate phenotype

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27
Q

codominance

A

2 alleles are both dominant, forms a new phenotype where both are present, spotted.

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28
Q

Lethal alleles

A

mutations in genes whose proteins are essential for survival, the organism can die from it

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29
Q

recessive lethal allele

A

homozygotes don’t survive, 2 copies allele needed to kill

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30
Q

dominant lethal allele

A

only 1 allele needed to kill, very rare

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31
Q

pleiotropy

A

expression of an allele that has multiple phenotypic effects. can be expressed at different developmental stages

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32
Q

x linked recessive

A

more males affected, no sons receive it. affected females pass it to all sons

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33
Q

x linked dominant

A

affected males pass to all daughters but not sons

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34
Q

dosage compensation

A

females have the potential to make twice the x linked genes but have gene inactivation randomly. preventing the expression of x linked genes every single time

35
Q

epistasis

A

2+ genes influence a trait and one overrides the other

36
Q

recessive epistasis

A

the homozygous genotype prevents the expression of another

37
Q

dominant epistasis

A

a dominant allele of one gene overrides the expression of another gene

38
Q

gene interaction

A

2 or more genes influence a single trait

39
Q

complementary gene interaction

A

at least 1 dominant allele of each gene is needed to produce a certain phenotype. 1 allele is stronger than the other

40
Q

euploidy

A

having an exact multiple of complete chromosome sets

ex: haploid, diploid

41
Q

aneuploidy

A

having an extra or missing individual chromosome

42
Q

monosomic

A

loss of a single chromosome

2n-1

43
Q

trisomy

A

gain of a single chromosome

2n+1

44
Q

why are triploids usually sterile?

A

because they cant be equally distributed into their own cells, they produce aneuploidy gametes.

45
Q

What are the ways chromosomes numbers can be varied?

A

nondisjunction, complete nondisjunction, mitotic slippage, hybridization

46
Q

nondisjunction

A

during meiosis I or II, chromosomes don’t correctly separate

47
Q

what are the results of nondisjunction

A

offspring with one extra or one missing chromosome, anueploidy

48
Q

complete nondisjunction

A

no cell separation, one daughter cell empty in meiosis 1, cell separates only in meiosis 2

49
Q

mitotic slippage

A

mitosis fails and never happens, cell never separates results in tetraploid cell

50
Q

1:1

A

Test cross

51
Q

3:1

A

F1xF1 single trait- normal expected results

52
Q

9:3:3:1

A

dihybrid normal results, 2 traits

53
Q

1:2:1

A

incomplete dominance

54
Q

1:1:1:1

A

codominance

55
Q

2:1

A

recessive lethal

56
Q

9:3:4

A

recessive epistasis (albino scenario)

57
Q

12:3:1

A

dominant epistasis

58
Q

9:7

A

complementary interaction/ duplicate recessive epistasis (at least 1 capital of each gene to give a certain phenotype)

59
Q

down syndrome

A

2n+1 autosomic

60
Q

patau

A

2n+1 autosomic

61
Q

edward

A

2n+1 autosomic

62
Q

turner

A

sex linked 2n-1 (X)

63
Q

klinefelter

A

sex linked 2n+1 (XXY)

64
Q

triplox

A

sex linked 2n+2 to + 4, extra x

65
Q

what are the consequences of aneuploidy

A

can cause abnormal phenotype due to imbalance of gene expression

66
Q

how does a trisomy express

A

excessive amounts of gene products

67
Q

how does a monosomy express

A

deficient amounts of gene products

68
Q

what can non disjunction lead to

A

aneuploidy

69
Q

what can complete nondisjunction cause

A

autopolyploidy, like a triploid

70
Q

what can mitotic slippage lead to

A

autopolyploidy

71
Q

what can hybridization lead to

A

allopolyploidy, sterility

72
Q

allopolyploidy

A

more than 2n (polyploidy) with 2 different but similar species

73
Q

autopolyploidy

A

more than 2n all chromosomes from the same species.

74
Q

Which hybrids are sterile and which arent

A

if there is a nondisjunction, then there are 2 copies of each chromosome (amphidiploid) then those hybrids are viable offspring. If 2 species mate but meiosis performs like normal, the gametes are non viable because there are not even pairs.

75
Q

What causes deletion and duplication

A

unequal crossover

76
Q

What is intercalary and terminal deletion

A

intercalary- deletion in interior

terminal-deletion at the end

77
Q

what happens if there is a deletion on a very short chromosome

A

hypoploidy: under representation of a gene

78
Q

what happens if there is a duplication

A

hyperploidy: over representation of a gene

79
Q

what is paracentric and pericentric inversion

A

para- does not include centromere

peri-includes centromere

80
Q

What are some of the possible effects of inversion

A

could affect fertility, causes loop formation, a fragment is lost

81
Q

What are the consequences of translocations

A

reduced fertility

82
Q

What if translocation happens during meiosis

A

1 chromosome can be homologous to more than one other, creates cross or diamond type formation gametes are duplicated and deficient

83
Q

robertsonian translocation

A

the extreme of short chromosomes attach to longer chromosomes. usually on acrocentric (centrosome near end)

Genetics (8 decks)

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