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Biology > Variation chromosome structure & number 4 > Flashcards

Variation chromosome structure & number 4 Flashcards

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AP® Biology flashcards Biology 101 flashcards
1
Q

What are the types of chromosome mutations?

A
  1. Deletion
  2. Duplication
  3. Inversions
  4. Translocation
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2
Q

Deletion

A

Segment of chromosomal material is missing (deficiency is the term used to describe a missing region of a chromosome)

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3
Q

Duplication

A

Section of a chromosome is repeated more than once within the chromosome

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4
Q

Inversion

A

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

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5
Q

Translocation

A

Occurs when one segment of a chromosome becomes attached to a different chromosome or to a different part of the same chromosome

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6
Q

Simple Translocation

A

Occurs when a single piece of chromosome is attached to another chromosome (1-way transfer)

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7
Q

Reciprocal translocation

A

Two different chromosomes exchange pieces, thereby altering both of them (2-way transfer)

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8
Q

________ & _________ are changes in the total amount of genetic material in a single chromosome

A

Duplication & deletions

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9
Q

_________ & ________ are chromosomal rearrangements

A

Inversions & translocation

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10
Q

Deletion you _______ genetic material & duplication you ______ genetic material

A

Lose, gain

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11
Q

Loss of genetic material due to deletion tends to be ________ to an individual phenotype

A

Harmful

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12
Q

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

A

Deletion

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13
Q

_________ can also occur when recombination takes place at the wrong spot between two homologous chromosomes where the product is one chromosome has deletion & other has duplication

A

Deletion

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14
Q

The phenotype consequences of deletions depends on the __________ and whether or not essential genes were lost (which would be most harmful)

A

Size deleted

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15
Q

__________ syndrome is a result of deletion in the short arm in chromosome 5

A

Cri-du-chat syndrome

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16
Q

Terminal deletion

A

When an end piece is deleted

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17
Q

Interstitials(internal) deletion

A

Occurs when 2 places in between is lost

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18
Q

__________ can created a new gene

A

Interstitial deletion

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19
Q

_________ tends to have less harmful phenotype consequences than deletions

A

Duplication

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20
Q

_________ results in extra genetic material

A

Duplication

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21
Q

Repetitive sequences

A

Sequences that occur multiple times

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22
Q

Nonallelic homologous recombination

A

When a crossover occurs at homologous sites (repetitive sequences) but the site is not alleles of the same gene

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23
Q

____________ results in one chromatid having an internal duplication & the other chromatid has a deletion

A

Nonallelic homologous recombination

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24
Q

Gene duplication

A

Occurs when a gene increase in number like when there two C genes on a chromosome

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25
Q

The phenotype consequences of duplication depends on the _________ duplicated whereas its likely to have an effect on the phenotype if large amounts are duplicated & has bad recombination

A

Amount

26
Q

____________ disease is a result of duplication in the short arm of chromosome 17

A

Chariot- marie tooth disease

27
Q

_____________ usually don’t result in phenotype consequence

A

Inversion

28
Q

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

A

Inversion

29
Q

Inversion are classified by the location of the _________

A

Centromere

30
Q

Pericentric inversion

A

If the centromere is within the inverted region of the chromosome

31
Q

Paracentric inversion

A

If the centromere is found outside the inverted region

32
Q

When a chromosome goes through ________ the total amount of genetic material is the same (why it doesn’t have phenotype consequences)

A

Inversion

33
Q

Position Effect

A

Is a change in phenotype that occurs when the position of a gene changes from one location to another (cause by inversion)

34
Q

The position effect results in a change of ___________

A

Gene expression

35
Q

Translocation

A

Involves exchange between different chromosomes

36
Q

__________ is when a piece from one chromosome is attached to another chromosome

A

Translocation

37
Q

Translocation also involves ______________ where DNA breaks & a bad repair is resulted (has bad crossing over & non homologous)

A

Two break (2 - way transfer)

38
Q

Reciprocal translocation

A

When two nonhomologous chromosomes cross over

39
Q

________ & _______ change the number of chromosomes

A

Aneuploidy & Euploidy

40
Q

Aneuploidy

A

Change the number of specific chromosomes

41
Q

Euploidy

A

Change in the number of complete sets of chromosomes

42
Q

If an euploid variation occurred it will end in ______

A

“ploid” (ex. triploid, tetraploid)

43
Q

If an aneuploidy variation occurred then it will end in _______

A

“somy” (ex. trisomy (2n+1), monosomy (2n-1))

44
Q

____________ causes an imbalance in gene expression which can have harmful consequences on the phenotype

A

Aneuploidy

45
Q

What are the most common trisomies?

A

Trisomy in chromosome 13, 18, 21

46
Q

Aneuploidy & euploidy occurs during _______ by congenital where 50% of miscarriage occur & low survival rate at birth

A

Meiosis ( 1 or 2)

47
Q

Aneuploidy of _______ is less serve due to X-inactivation the extra X-chromosome is turned off

A

Sex chromosome

48
Q

______________ in chromosome are influenced by the age of the parents(mostly the female) where the older the parents (mostly the mom) is more likely to produce children with abnormalities in chromosome number (ex. down syndrome)

A

Human abnormalities

49
Q

Down syndrome is due to _________

A

Trisomy 21 (3 chromosomes in chromosome number 21)

50
Q

Down syndrome has 15x chance of ________

A

Leukemia

51
Q

_________/________ in older women trying to have kids may be benetifical because the body may not be ready or maybe be risky for the mother & child

A

Aneuploidy/ Miscarriage

52
Q

Down syndrome is cause by ____________ in chromosome 21 during meiosis 1

A

Nondisjunction

53
Q

What is another explanation of down syndrome?

A

That the female egg are the rest in prophase of meiosis 1 for a long time & the extra time may be contributing to an increased frequency in nondisjunction

54
Q

Diploid animals are ______ & if the number of chromosomes is greater than 2n than its polyploid & can be lethal (exception are female bees (diploid 2n) & male bees (monoploid 1n)

A

2n

55
Q

There is 8n cells in the liver because why?

A

They have detoxification proteins

56
Q

Nondisjunction

A

Chromosomes don’t segregate properly

57
Q

Meiotic nondisjunction

A

Can produce cells that have too many or too few chromosomes

58
Q

Nondisjunction happens in meiosis at ___________

A

Anaphase 1 or 2

59
Q

Nondisjunction in meiosis 1 yields _____ bad haploid cells & nondisjunction in meiosis 2 yields _____ bad haploid cells (Aneuploidy)

A

4, 2

60
Q

Complete nondisjunction

A

When all of the chromosomes undergo nondisjunction & move to one of the daughter cell where the results is a diploid cell & a cell without any chromosomes (euploidy)

Biology (64 decks)

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