Midterm 1 Current Troubles Flashcards

1
Q

When the centromere of a chromosome is at the very end

A

Telocentric

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2
Q

When the centromere is very off Center but there is still parts on each side

A

Acrocentric

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3
Q

When a centromere is a little off center

A

Submetacentric

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4
Q

When a centromere is directly in the middle

A

Metacentric

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5
Q

What is the purpose of PAR

A

Behave like autosomes and recombine during meiosis

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6
Q

What is MSY

A

Non recombining section of DnA only on Y chromosome

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7
Q

What is SRY

A

Region that codes for testis determining factor

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8
Q

What is testis determining factor

A

What causes the formation of the testis which then release MIF hormones to degrade female organs and produce testosterone to develop male sex characteristics

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9
Q

Examples of age dependent expression

A

Male pattern baldness (androgenic alopecia), huntingtons disease

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10
Q

Example of sex limited gene expression

A

Hen or rooster feathering

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11
Q

Example of sex linked

A

Color blindness

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12
Q

Example of sex influenced

A

Male pattern baldness

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13
Q

Example of temp-dependent gene expression

A

Himalayan rabbits where the pigment producing enzyme works from 15-25 degrees but not at 35 or above

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14
Q

Why did Mendel study pea plants

A

They have short generation time, have different observable traits, controllable mating, cheap and available, grow fast

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15
Q

Example of environmental impact on phenotype

A

Hydrangea flowers blue in ph 5.5 or lower pink in 6.5 or higher or purple 5.5-6.5

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16
Q

Penetrance vs Expressivity

A

Penetrance is the proportion of individuals with a genotype who express the phenotype

Expressivity is the variation in expression between people with an allele

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17
Q

Penetrance can be

A

Complete or incomplete

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18
Q

Expressivity can be

A

Narrow or broad

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19
Q

What is incomplete linkage

A

Two genes typically passed on with one another due to being close together on the chromosome

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20
Q

What is unlinked genes

A

Genes far apart on a chromosome so are typically passed on independently of each other

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21
Q

What is incomplete linkage

A

Genes close enough to be passed together normally but far enough to be independent sometimes

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22
Q

What is a recombinant phenotype

A

A phenotype which arises due to crossing over

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23
Q

What is Duchenne muscular dystrophy the result of

A

Lack of seek linked gene for muscle protein called dystrophin (recessive)

24
Q

Some sex linked disorders are

A

Hemophilia, duchenne muscular dystrophy, hypertrichosis

25
Is someone has lots of hair all over their body they have
Hypertricosis
26
Diseases caused by non-disjunction are
Down syndrome Klinefelter syndrome (XXY) Monopsony x (Turner’s syndrome) Trisomy x Jacob’s syndrome (XYY)
27
What is a diseases which results in structural alterations of a chromosome
Cri du chat
28
Cri du chat is a result of
A deletion of part of chromosome 5 Results in high pitch cat like cries
29
What is Marfans symptoms and name for the genetic thing this results from
Pleiotropy Tall Disproportionate arms and legs Dislocation of lens of eye Heart issues Due to less of a protein which creates elastic fibrils being created
30
Difference between plieotropy and polygenic inheritance
One gene many traits Many genes one trait
31
Intra versus intergenic interaction
Intragenic is interactions between alleles on the same gene locus producing non Mendelian results Co dominance, incomplete dominance, multiple alleles Intergenic interaction is between different gene loci Epistasis or polygenic inheritance
32
Example of dominant epistasis
Squash color
33
Example of complimentary epistasis
Sweet pea flower color
34
The genes of sweet pea flower color code for
Anthocyanin
35
Duplicate dominant epi eg
Fruit shape of capsella bursa pastoris Triangle or oval
36
Polymeric gene interaction epi eg
Squash fruit shape
37
A genome is
All the dna in a cell
38
A centrosome is the
Microtubule organizing center
39
G1 checkpoint looks for
Cell size, nutrients, social signals, undamaged dna
40
The G2 checkpoint checks if
Chromosomes are replicated, dna undamaged, active MPF present
41
M checkpoints info
Checkpoint 3 and 4 Between metaphase and anaphase -apc active and that whole thing has happened Between anaphase and telophase - everything properly separated
42
When does cyclin synthesis begin
S phase
43
Tell me about the main internal signal we need to know
APC activates when kinetochore microtubules connect to all kinetochores, this causes the degradation of securin which is inhibiting seperase, now that seperase is uninhibited it separates chromatids by degrading cohesin proteins
44
What are the 3 examples of external signals
Growth factors Density dependent inhibition Anchorage dependence
45
What are the types of mutants
Weak, stronger, strongest
46
Difference between homomorphic and homogametic sex
Homomorphic refers to two morphologically identical chromosomes where homogametic sex refers to the production of alike sex chromosomes eg XX
47
What is hemizygous
Having one of a type of chromosome in an otherwise diploid organism X and y in xy
48
What are all of the parts we need to know on a Y chromosome
PAR 1 and 2, MSY, SRY
49
What is a Barr body
A compacted inactive form of an X chromosome
50
When do Barr bodies form
Randomly in embryonic cells during x inactivation
51
What gene initiates x inactivation
XIST gene
52
How does XIST work
Produces copies of RNA which cover the chromosome and initiate X inactivation
53
A fertilized egg is called a
Diploid zygote
54
What is added to a karyotype to stop the cell cycle
Colchicine
55
What part of the cell cycle does colchicine stop
Meiosis so chromosomes most condensed
56