Variation chromosome structure & number 3 Flashcards

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1
Q

Genetic variation

A

Genetic differences among members of the same species

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2
Q

How are chromosomes classified?

A
  1. Location of centromere
  2. Size
  3. Banding pattern
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3
Q

What are the classification of centromeres?

A
  1. Metacentric
  2. Submetacentric
  3. Acrocentric
  4. Telocentric
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4
Q

Metacentric

A

The centromere is near the middle

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5
Q

Submetacentric

A

The centromere is slightly off the center

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6
Q

Acrocentric

A

The centromere is significantly off the center but not at the end

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7
Q

Telocentric

A

The centromere is at one end

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8
Q

Since chromsomes aren’t directly connected in the middle they have a ________ & _________

A

Long arm & Short arm

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9
Q

In a _________ chromsomes are numbered based on size where larger chromosomes have lower number such as (1,2,3) & smaller chromsomes have higher number like (21, 23)

A

Karyotype

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10
Q

What are the different type of chromsome mutations?

A
  1. Deletions
  2. Duplication
  3. Inversions
  4. Translocation
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11
Q

Deletion

A

A segment of genetic material is missing (Deficiency- describes the region missing in a chromsome)

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12
Q

Duplication

A

A section of a chromsome is repeated more than once

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13
Q

Inversion

A

Involves a change in the direction of the genetic material along a chromosome

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14
Q

Translocation

A

Occurs when one segment of a chromosome become attatched to a different chromosome or to different part of the same chromosome

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15
Q

Simple translocation

A

Occur when a single piece of chromsome is attatched to another chromsome

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16
Q

Reciporcal translocation

A

Two different chromsome exchange peices

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17
Q

___________ & ____________ changes the total amount of genetic material in a chromsome

A

Deletion & Duplication

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18
Q

__________ & ____________ are chromsomes rearrangments

A

Inversion & Translocation

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19
Q

A chromosome _______ occurs when a chromosome break in one or more places & a fragment of the chromosome is lost

A

Deletion

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20
Q

_____________ usually have a negative effect on a phenotype speically when there is a large amount

A

Deletion

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21
Q

____________ can occur because of crossing over

A

Duplication

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22
Q

Repetitive sequence

A

Sequence on a chromosome that occur multiple times

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23
Q

Nonallelic homologous recombination

A

Crossing over between repetitive sequences from two different genes which results in one chromosome being duplicated & the other has deletion

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24
Q

____________ results in extra genetic material

A

Gene duplication

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25
Q

Duplication only affect the phenotype if a ________ amount is duplicated

A

Large

26
Q

Copy number variation (CNV)

A

Structural variation in which a segment of DNA has a copy number different among members of the same species (May b caused by duplication)

27
Q

Segmental Duplication

A

Results in a homlog with two copies of a the same gene

28
Q

A chromosome with an _________ contains a segment that has been flipped so that it runs in the opposite direction

A

Inversion

29
Q

What are the different classification of inversion base on the centromere?

A
  1. Pecentric Inversion
  2. Paracentric Inversion
30
Q

___________ dont have an negative effect on the phenotype because when a chromosome contains an the total amount of genetic material remains the same

A

Inversion

31
Q

__________________ may produce abnormal chromosome due to crossing over

A

Inversion Heterozygote

32
Q

Inversion Heterozygote

A

An individual carrying one normal copy of a chromosome & one copy with an inversion

33
Q

An individual carrying __________ amounts of inversion is more likely to produce abnormal gametes

A

Large

34
Q

____________ involves the change between different chromosome

A

Translocation

35
Q

In _______________ a piece from one chromosome is attatched to anohter chromosome

A

Translocation

36
Q

Balanced Translocation

A

Translocation that doesn’t change the amount of genetic material (Doesn’t have a negative effect on the phenotype)

37
Q

Individuals with _______________ may produce abnormal gametes due to the pairing & segregation of chromosome

A

Reciprocal Translocation

38
Q

Individuals who carry _______________ have a greater risk of producing gametes with unbalanced combination of chromosomes

A

Balanced Translocation

39
Q

Euploid

A

Have a chromosome number that is an exact multiple of a chromsome set (Ex. 8 chromosome with 2 sets of 4, 8/4 =2 )

40
Q

Aneuploid

A

Alteration in the number of chromosomes so the total number is not an exact multiple of a set (Ex A fly having 9 chromsomes instead of 8 )

41
Q

____________ causes an imbalance in gene expression that causes it to have a negative effect on the phenotype

A

Aneuploidy

42
Q

Changes in the number of sets of chromsomes is referred to as _______________

A

Varaition in Euploidy

43
Q

Nondisjunction

A

Chromosomes dont segregate properly

44
Q

Meiotic nondisjunction

A

Can produce cells that have too many or too few chromosome

45
Q

Meiotic nodisjucntion can produce ______________ or _____________

A

Aneiploidy or Polyploidy

46
Q

Changes in euploidy occur by what?

A

Auropolploidy, Alloploidy, & Allopolploidy

47
Q

Autopoluploid

A

Has one or more extra set of chromosomes

48
Q

Alloploidy

A

Results of interspecies crosses

49
Q

A deletion that occurs in the middle of a chromosome is called __________

A

Interstitial

50
Q

The globin gene family includes genes for the proteins _________ and _________

A

Hemoglobin Myoglobin

51
Q

What chromosome mutation is the cause of Angelman syndrome and Prader-Willi syndrome ?

A

Deletion

52
Q

__________ may arise from nonallelic homologous recombination

A

Deletion & Duplication

53
Q

In a ___________ inversion, the centromere lies outside the inverted region of a chromosome

A

Paracentric

54
Q

Paracentric Inversion

A

Inversion that includes the centromere

55
Q

Paracentric inversion

A

Inversion that doesn’t include the centromere

56
Q

_____________ are usually the result of the loss (deletion) of serval genes

A

Syndromes (Ex. Cri-du-chat syndrome)

57
Q

__________ & ____________ results in chromosomes forming a cross pattern during meiotic pairing

A

Inversion & translocation

58
Q

____________ can result in the formation of a chromosome with a dicentric bridge

A

Inversion

59
Q

___________ usually caused by modifications to the telomere of the chromosome

A

Translocation

60
Q

__________ causes homologous chromosomes to form a loop during meiotic pairing

A

Inversion