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
Q

Is someone has lots of hair all over their body they have

A

Hypertricosis

26
Q

Diseases caused by non-disjunction are

A

Down syndrome
Klinefelter syndrome (XXY)
Monopsony x (Turner’s syndrome)
Trisomy x
Jacob’s syndrome (XYY)

27
Q

What is a diseases which results in structural alterations of a chromosome

A

Cri du chat

28
Q

Cri du chat is a result of

A

A deletion of part of chromosome 5
Results in high pitch cat like cries

29
Q

What is Marfans symptoms and name for the genetic thing this results from

A

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
Q

Difference between plieotropy and polygenic inheritance

A

One gene many traits
Many genes one trait

31
Q

Intra versus intergenic interaction

A

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
Q

Example of dominant epistasis

A

Squash color

33
Q

Example of complimentary epistasis

A

Sweet pea flower color

34
Q

The genes of sweet pea flower color code for

A

Anthocyanin

35
Q

Duplicate dominant epi eg

A

Fruit shape of capsella bursa pastoris
Triangle or oval

36
Q

Polymeric gene interaction epi eg

A

Squash fruit shape

37
Q

A genome is

A

All the dna in a cell

38
Q

A centrosome is the

A

Microtubule organizing center

39
Q

G1 checkpoint looks for

A

Cell size, nutrients, social signals, undamaged dna

40
Q

The G2 checkpoint checks if

A

Chromosomes are replicated, dna undamaged, active MPF present

41
Q

M checkpoints info

A

Checkpoint 3 and 4
Between metaphase and anaphase
-apc active and that whole thing has happened
Between anaphase and telophase
- everything properly separated

42
Q

When does cyclin synthesis begin

43
Q

Tell me about the main internal signal we need to know

A

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
Q

What are the 3 examples of external signals

A

Growth factors
Density dependent inhibition
Anchorage dependence

45
Q

What are the types of mutants

A

Weak, stronger, strongest

46
Q

Difference between homomorphic and homogametic sex

A

Homomorphic refers to two morphologically identical chromosomes where homogametic sex refers to the production of alike sex chromosomes eg XX

47
Q

What is hemizygous

A

Having one of a type of chromosome in an otherwise diploid organism
X and y in xy

48
Q

What are all of the parts we need to know on a Y chromosome

A

PAR 1 and 2, MSY, SRY

49
Q

What is a Barr body

A

A compacted inactive form of an X chromosome

50
Q

When do Barr bodies form

A

Randomly in embryonic cells during x inactivation

51
Q

What gene initiates x inactivation

52
Q

How does XIST work

A

Produces copies of RNA which cover the chromosome and initiate X inactivation

53
Q

A fertilized egg is called a

A

Diploid zygote

54
Q

What is added to a karyotype to stop the cell cycle

A

Colchicine

55
Q

What part of the cell cycle does colchicine stop

A

Meiosis so chromosomes most condensed