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Genetics > Chapter 8: Abberations > Flashcards

Chapter 8: Abberations Flashcards

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Biology 101 flashcards
1
Q

Chromosomes can be identified by

A
  1. location of centromere
  2. size
  3. banding patterns
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2
Q

Metacentric

A

centromere near the middle of the chromosome

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3
Q

Subcentric

A

centromere slightly off-center

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4
Q

Acrocentric

A

centromere significantly off-center but not at either end

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5
Q

Telocentric

A

centromere is at one end

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6
Q

Chromosomes are numbered according to

A

size (large to small)

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7
Q

Banding patterns are used if

A

multiple chromosomes have a similar size and centromere location.

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8
Q

Stains are applied to see what?

A

banding patterns

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9
Q

Deletion

A

the condition in which a segment of chromosomal materials is missing

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10
Q

Duplication

A

repetition of a segment of DNA more than once within a genome

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11
Q

Inversion

A

a change in the direction of genetic material along a chromosome in which a segment is flipped so it runs in the reverse direction

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12
Q

Translocation

A

the phenomenon in which one segment of a chromosome breaks off and becomes attached to a different chromosome or a different part of the same chromosome

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13
Q

_______ alters the total amount of genetic material in the chromosome

A

deletion

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14
Q

_______ tends to be terminal

A

deletion

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15
Q

_______ occurs when a chromosome breaks in 1 or more places and a fragment is lost

A

deletion

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16
Q

terminal deletion

A

at the end of a chromosome

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17
Q

interstitial deletion

A

internal segment lost

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18
Q

deletion effects depend on if __________ or ____________ genes were lost

A

essential, nonessential

19
Q

_______ alter the total amount of genetic material in the chromosome

A

duplications

20
Q

extra material is gained in

A

duplications

21
Q

may be caused by abnormal crossing over i.e. misaligned homologous chromosomes

A

duplications

22
Q

Pericentric inversion

A

the centromere is located within the inverted region of the chromosome

23
Q

paracentric inversion

A

the centromere is found outside the inverted region

24
Q

inversions cause it to run

A

in the opposite direction

25
Q

does not affect the amount of genetic material

A

inversions

26
Q

piece of a chromosome is attached to another, not its sister chromatid.

A

translocations

27
Q

Balanced translocation

A

does not alter the total amount of genetic material

28
Q

unbalanced translocation

A

results in a cell having too much or too little genetic material compared to a normal cell

29
Q

Robertsonian translocation

A

*most common type in humans
* REARRANGEMENT OF GENETIC MATERIAL THAT ARISES FROM BREAKS NEAR THE CENTROMERES OF TWO NONHOMOLOGOUS ACROCENTRIC CHROMOSOMES

30
Q

two types of changes in chromosome number

A
  1. variation in the number of SETS of chromosomes
  2. variation in the number of chromosomes WITHIN a set
31
Q

Euploid

A

an organism in which the chromosome # is an exact multiple of a chromosome set.
Ex. Dipliod (2n), Triploid (3n), Tetraploid (4n)

32
Q

Aneupliod

A

an abnormal variation in chromosome # such that the total # of chromosomes is not an exact multiple of a set or number.
Ex. 2n+1, 3n-1: an aberration of euploidy

33
Q

Endopolyploidy

A

occurrence of cells that are polyploid in an otherwise diploid animal

34
Q

Euploidy variations

A

variation in the # of sets of chromosomes

35
Q

Aneuploidy variations

A

variation in the # of chromosomes within a set

36
Q

causes an imbalance of gene expression

A

Aneuploidy variations

37
Q

often detrimental to phenotype

A

Aneuploidy variations

38
Q

Meiotic Nondisjunction

A

chromosomes do not segregate equally during meiosis

39
Q

Mitotic Nondisjunction

A

chromosomes do not segregate equally during mitosis

40
Q
  • will result in gametes with the incorrect amount of chromosomes
  • effects differ based on if it occurs in meiosis 1 or 2
A

Meiotic Nondisjunction

41
Q

*Occurs in somatic cells
*Abnormality in chromosome # is occurring after fertilization

A

Mitotic Nondisjunction

42
Q

Two possibilities of Mitotic Nondisjunction

A
  1. sister chromatids separate improperly
  2. sister chromatid improperly attached to mitotic spindle is degraded
43
Q

Mosaic

A

cells of part of an organism differ genetically from the rest of the organism.

Genetics (11 decks)

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