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BSCI222 > Topic 9 - Chromosomal Rearrangements > Flashcards

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
Q

Genes that are able to move themselves to different parts of the genome.

A

Transposable Elements

26
Q

A DNA based TE that cuts out the sequence and pastes it into a different location.

A

DNA Transposons

27
Q

Enzyme encodes by DNA transposons that cuts the sequence out of the DNA.

A

Transposase

28
Q

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.

A

Retrotransposons

29
Q

Enzyme used in TE to insert the DNA into other parts of the genome.

A

Integrase

30
Q

Enzyme produced by retrotransposons to convert cDNA into RNA.

A

Reverse Transcriptase

31
Q

A TE that is capable of moving itself.

A

Autonomous Transposon

32
Q

A TE that can no longer code for its own enzymes and uses enzymes from other TEs to move.

A

Nonautonomous Transposon

33
Q

Additional nucleotides that are inserted along with the TE.

A

Flanking Direct Repeats

34
Q

The order of genes on chromosomes that is shared across a related species.

A

Synteny

35
Q

A chromosomal mutation that results in more than 2 sets of a species haploid number due to diploid gametes.

A

Autopolyploidy

36
Q

3n

A

Triploids

37
Q

4n

A

Tetraploids

38
Q

5n

A

Pentaploids

39
Q

An individual with multiple genes from different species, hybrids.

A

Allopolyploidy

40
Q

Changes in the number of individual chromosomes.

A

Aneuploidy

41
Q

2n-2

A

Nullisomy

42
Q

2n-1

A

Monosomy

43
Q

2n+1

A

Trisomy

44
Q

2n+2

A

Tetrasomy

BSCI222 (5 decks)

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