Topic 9 - Chromosomal Rearrangements Flashcards

1
Q

A mutation that results in the loss of a chromosome segment.

A

Deletions

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2
Q

Expression of a normally recessive gene due to deletion of the dominant gene.

A

Pseudodominance

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3
Q

Mutation that results in a chromosome segment that is turned 180 degrees.

A

Inversions

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4
Q

An inversion that does not include the centromere.

A

Paracentric Inversion

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5
Q

An inversion that includes the centromere.

A

Pericentric Inversion

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6
Q

Mutations that cause some loss or duplication of information.

A

Unbalanced Mutation

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7
Q

Mutation in which part of the chromosome has been doubled.

A

Duplication

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8
Q

Duplicated region is next to each other.

A

Tandem Duplication

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9
Q

Duplicated region is spread out.

A

Dispersed Duplication

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10
Q

Genetic variation that results from duplication.

A

Copy Number Variants (CNVs)

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11
Q

The amount of a gene expressed within a genome.

A

Gene Dosage

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12
Q

Evolutionarily related genes with a similar sequence.

A

Homologs

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13
Q

Homologs in one species that arise from duplication followed by a point mutation to change the function.

A

Paralogs

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14
Q

Multiple copies of similar genes in a genome made up of paralogs.

A

Gene Families

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15
Q

Homologs between species, mostly evolved from a common ancestor.

A

Orthologs

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16
Q

When a duplication leads to a gene with the ancestral function and a gene with a new function.

A

Neofunctionalization

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17
Q

When a duplication leads to the original gene getting split into two genes.

A

Subfunctionalization

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18
Q

A link between two chromosomes that arises in paracentric crossing over, resulting one one gene with two centromeres and one with no centromeres.

A

Dicentric Bridge

19
Q

When individuals with the same mutation mate with each other, resulting in offspring with the same mutation.

A

Speciation

20
Q

Mutation that results in the movement of part of one chromosome to a non-homologous chromosome.

A

Translocation

21
Q

A translocation that results in both chromosomes exchanging genetic information.

A

Reciprocal Translocation

22
Q

A translocation that results in one chromosome exchanging genetic information.

A

Nonreciprocal Translocation

23
Q

A reciprocal translocation between two acrocentric chromosomes, resulting in one large gene and one fragment.

A

Robertsonian Translocation

24
Q

Repetitive sequences in DNA that aid in recombination between nonhomologous chromosomes.

A

Dispersed Repeats

25
Genes that are able to move themselves to different parts of the genome.
Transposable Elements
26
A DNA based TE that cuts out the sequence and pastes it into a different location.
DNA Transposons
27
Enzyme encodes by DNA transposons that cuts the sequence out of the DNA.
Transposase
28
RNA based TE that causes an RNA strand to be made from the transposon sequence which is then copied and inserted into a new part of the sequence.
Retrotransposons
29
Enzyme used in TE to insert the DNA into other parts of the genome.
Integrase
30
Enzyme produced by retrotransposons to convert cDNA into RNA.
Reverse Transcriptase
31
A TE that is capable of moving itself.
Autonomous Transposon
32
A TE that can no longer code for its own enzymes and uses enzymes from other TEs to move.
Nonautonomous Transposon
33
Additional nucleotides that are inserted along with the TE.
Flanking Direct Repeats
34
The order of genes on chromosomes that is shared across a related species.
Synteny
35
A chromosomal mutation that results in more than 2 sets of a species haploid number due to diploid gametes.
Autopolyploidy
36
3n
Triploids
37
4n
Tetraploids
38
5n
Pentaploids
39
An individual with multiple genes from different species, hybrids.
Allopolyploidy
40
Changes in the number of individual chromosomes.
Aneuploidy
41
2n-2
Nullisomy
42
2n-1
Monosomy
43
2n+1
Trisomy
44
2n+2
Tetrasomy