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Animal Genetics > Chromosome Aberrations > Flashcards

Chromosome Aberrations Flashcards

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Biology 101 flashcards
1
Q

Aberrations

A

abnormalities

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2
Q

Polyploidy

A

embryo has three, four, or more SETS of chromosomes (complete set duplicated)

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3
Q

Aneuploidy

A

the embryo does not have an exact multiple of the number characteristic of that species (only part of that set is wrong)

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4
Q

Types of aneuploidy

A

trisomy and monosomy

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5
Q

Triploid

A

3 sets for polyploidy

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6
Q

Tetraploid

A

4 sets for polyploidy

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7
Q

What is polyploidy a result of?

A

result of unreduced gamete (2n) and a normal gamete (n)

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8
Q

Give two examples of how an embryo can become polyploidy:

A
  1. two sperm fertilizing one egg
  2. haploid sperm and a diploid egg
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9
Q

Chromosome nondisjunction

A

failure of homologous chromosomes to disjoin correctly during meiosis

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10
Q

The probability of nondisjunction in autosomes ______________ with age.

A

increases

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11
Q

If a gamete is fertilized from a nondisjunction in autosomes then what are the results?

A

trisomy or monosomy

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12
Q

Trisomy

A

one chromosome extra

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13
Q

Monosomy

A

one chromosome absent

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14
Q

X-Monosomy

A

Turners syndrome

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15
Q

Turners syndrome

A

XO; results when one of the X chromosomes is missing in females causes developmental problems

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16
Q

Changes in chromosome structure include:

A
  1. deletion
  2. duplications
  3. inversion
  4. translocation
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17
Q

Deletion

A

part of the chromosome is missing

18
Q

What do deletions cause?

A

permanent loss of genetic material

19
Q

Terminal deletion

A

deletion close to chromosome end

20
Q

Interstitial deletion

A

deletion within a chromosome arm

21
Q

Duplication

A

part of the chromosome is present TWICE

22
Q

Inversion

A

results in the reversal of the gene sequence

23
Q

What is curly calf syndrome caused by?

A

this genetic defect is a result of the deletion of a small segment of DNA which contains an essential gene

24
Q

Polled Intersex Syndrome in Goats is caused by…

A

11.7 kb deletion in the FOX L2 Gene

25
Q

Pseduohermaphroditism in horses is caused by…

A

200 kb deletion in ECA29 Gene

26
Q

Metafemale

A

“XXX” affects only females and results in three X chromosomes instead of 2

27
Q

Klinefelter syndrome

A

“XXY” where males are born with an extra X chromosome

28
Q

Structural abnormalities are…

A

larger regions of deletion or duplication that increase the likelihood that there will be an associated phenotype

29
Q

How do ringed chromosomes form?

A
  1. break in both arms
  2. terminal ends fuse together
  3. broken arms fuse together as a ring
30
Q

What percent of ringed chromosomes arise spontaneously?

A

99% the rest may be formed following genetic damage

31
Q

Translocation

A

part of one chromosome exchanges place with the corresponding part of a nonhomologous chromosome

32
Q

Paracentric inversion

A

part breaks in chromosome and reinserts itself into a piece of DNA

33
Q

Pericentric inversion

A

the centromere breaks in chromosome and is inverted and reinserted in DNA

34
Q

What is tobiano spotting caused by?

A

an inversion

35
Q

Balanced translocation

A

not losing any genetic information equal switch between chromosomes

36
Q

Unbalanced translocation

A

when an offspring inherits a chromosome with extra or missing genetic information from a parent with a balanced translocation

37
Q

What is REEL in horses caused by?

A

a balanced translocation

38
Q

Balanced translocation in pigs causes what?

A

smaller litter size and is very common

39
Q

Translocation 1/8 in cattle causes…

A

slightly lowered fertility

40
Q

Robertsonian translocation

A

centric fusion

41
Q

What does Robertsonian translocation do?

A

fragments from non-homologous chromosomes recombine in such a way that a single centromere is retained

42
Q

What does Robertsonian translocation look like?

A

the centromere is now shared between chromosomes and a fragment is lost

Animal Genetics (6 decks)

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