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Variation chromosome structure & number Flashcards

1
Q

Allelic Variation

A

Variation in specific genes

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2
Q

A reference point is used to determine what is __________ & ____________

A

Normal & abnormal (Ex. A normal person has 23 sets of pair of chromosomes so 46 chromosomes in total)

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3
Q

To classify & identify chromosomes scientist look at what?

A
  1. Centromere
  2. Size
  3. Banding patterns that are revealed when chromsomes are stained
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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

Aerocentric

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

Karyotype

A

Photo of organized chromosomes

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9
Q

Since chromosomes aren’t directly connected at the center one will be a _______ arm noticed by the letter p & a _______ noticed by the letter q

A

Long arm, short arm

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10
Q

In a karyotype the longest chromsomes have the ________ numbers & the smallest chromosomes have the ________ numbers

A

Lowest (like 1,2,3), largest (like 20, 21)

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11
Q

What are the types of mutations to affect/ rearrange genetic material in eukaryotic chromosomes?

A
  1. Deletions
  2. Duplications
  3. Inversions
  4. Translocation
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12
Q

Deletion

A

A segment of chromosomal material is missing (deleted) (deficiency- describes the missing (deleted) region)

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13
Q

Duplication

A

Section of a chromosome is repeated (duplicated) more than once in the chromsome

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14
Q

Inversion

A

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

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15
Q

Translocation

A

Occurs when one segement of a chromosome becomes attatched to a different chromosome or to a different part of the same chromosome

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16
Q

Simple Translocation

A

When a single piece of chromsome is attatched to another chromosome

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17
Q

Reciprocal Translocation

A

Two different chromsomes exchange peices which alters both of them

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18
Q

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

A

Deletion & duplication

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19
Q

_____________ & __________ are chromosomal rearrangments

A

Inversion & translocation

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20
Q

Loss of genetic material due to a deletion tends to be ____________ to an organism

A

Detrimental

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21
Q

____________ happens when a chromsome breaks in one or more places & the resulting fragments are lost

A

Deletion

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22
Q

Interstital deletion

A

When two fragments reconnect

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23
Q

____________ has a detrimental phenotype effect where larger deletions tend to be more harmful since more genetic materiall is missing (ex. Cri-du- chat sydrome)

A

Deletion

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24
Q

___________ tend to be less harmful than deletions because it results in extra genetic material

A

Duplications

25
Reptetive sequences
Segments of DNA that have idnetical or similar sequences
26
Nonallelic homologous recombinations
Crossover that has occural at repetitive sequences (homologous sites) but the sites are not the same version (allele) of the same gene (results may be on pair of the chromosome ebing duplicated 7 the other deleted)
27
\_\_\_\_\_\_\_\_\_\_ will affect the phenotype if its a large amount that was duplicated (Ex. CHarot -marie-tooth disease)
Duplication
28
\_\_\_\_\_\_\_\_\_\_\_\_ provides additional material for gene evolution sometimes leading to the formation of gene families
Duplication
29
Homologous genes
Two or more genes are dervived froma single ancestral gene
30
Paralogs genes
Homologous genes with a single species
31
Copy number variation (CNV)
Common among memebers of the same species
32
Inversion often occurs without ____________ consequences
Phenotype
33
A chromosome with an __________ contains a sgement that has been flipped so that it runs in the opposite direction (Inversion si classified based on the location of the centromere)
Inversion
34
If the centromere is within the inverted region of the chromosomes then that region is called what?
Pericentric inversion
35
If the cetromere is found outside the inverted region then that inverted region is called what?
Paracentric inversion
36
\_\_\_\_\_\_\_\_\_\_\_\_\_\_ may produce abnormal chromosomes due to crossing over
Inversion heterozygotes
37
Dicentric chromosomes
38
Dicentric bridge
Region connecting the centromere in dicentric chromosomes
39
Acentric fragment
Piece of chromosomes without any chromosomes
40
Balanced translocation
The total amount of genetric material us unchanged
41
\_\_\_\_\_\_\_\_\_\_\_ & ___________ ususally dont have phenotypic consequences
Inversion & translocation (&balances translocation)
42
Unbalanced translocation
Portions of genetic material are duplicated and/or deleted (results in phenotypic consequences) (ex. Robertsonian translocation)
43
Individuals with ________________ may produce abnormal gametes (offspring) due to the pairing & segregation of chromosomes
44
Individuals with _____________ can produce offsprings with unbalanced translocation
Balanced translocation
45
Euploid
Have a chromosomes number that is an exact multiple of a chromosome (Ex. A fruit fly has 8 chromosomes (2 sets of 4)) (8 divided by 4 = 2 exact sets)
46
Aneuploid
Alteration in the number of particular chromosomes so the total number of chromsomes is not an exact multiple of a set (Ex. A fruit fly with 9 chromosomes has 3 copies of chromosomes)
47
\_\_\_\_\_\_\_\_\_\_\_\_\_\_\_ is an abnormal condition that has negative effect on the phenotype
Aneuploidy
48
\_\_\_\_\_\_\_\_\_\_\_\_\_\_ causes an imbalanced in gene expression that is often determined to the phenotype of the individual
Aneuploidy
49
\_\_\_\_\_\_\_\_\_\_\_\_\_ in human causes detrimental phenotypes
Aneuploidy
50
Nondisjunction
Chromosomes dont segregate properly
51
Meiotic nondisjunction
Can produce cells that have too many or two few chromosomes
52
Mitotic nondisjunction
A patch of tissue in an organism is formed that has an attered chromosomes number
53
Meiotic nondisjunction can produce _________ or \_\_\_\_\_\_\_\_\_\_\_\_\_\_
Aneuploidy or polyploidy
54
Mitotic nondisjunction or chromosomes loss can produce a patch of tissue with an altered \_\_\_\_\_\_\_\_\_\_\_\_\_\_\_\_
Chromosome number
55
Changes in euploidy occur how ?
By: 1. Autopolyploidy 2. Alloploidy 3. Allopolyploidy
56
Autopolyploid
Individual with one or more extra set of chromosomes
57
Alloploidy
An allploid has one set of chromosomes from two different species that are called allodiploid
58
Allopolyploid
Contains two or more sets of chromosomes from two or more species

Biology (64 decks)

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