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Genetics > Chromosome Mutations > Flashcards

Chromosome Mutations Flashcards

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Biology 101 flashcards
1
Q

Chromosomal aberrations

A

Change from normal chromosome structure and #
Change in gene expression pattern
Detectable through karyotyping

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2
Q

Commonality of mutations

A

6/1000 live birth have some sort of mutation
Still births and miscarriages often result from mutations (embryonic lethal)
Often cause mental/developmental disorders and infertility

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3
Q

Euploid

A

Number of chromosomes in individual’s cells is a multiple of the normal haploid set

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4
Q

Aneuploid

A

Number of chromosomes in individual’s cells isn’t a multiple of the normal haploid set
1 or more extra or missing chromosomes

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5
Q

Nullisomy

A

Both homologous chromosomes are absent

Embryonic lethal

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6
Q

Monosomy

A

1 chromosome is missing

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7
Q

Trisomy

A

1 extra chromosome

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8
Q

Tetrasomy

A

2 extra chromosomes

Common in cancer patients

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9
Q

Nondisjunction

A

Homologous chromosomes during anaphase I or sister chromatids during anaphase II don’t separate properly

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10
Q

Trisomy 21 and advanced maternal age

A

As women age, Down syndrome becomes more common
Women’s eggs get older with age (women are born with all the eggs that they are going to have) and DNA damage accumulates

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11
Q

Monoploidy

A

1 complete set of chromosomes

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12
Q

Diploidy

A

2 complete sets of chromosomes

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13
Q

Polyploidy

A

More than 2 complete sets of chromosomes

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14
Q

Autopolyploidy

A

Extra set of chromosomes is identical to the normal haploid set

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15
Q

Allopolyploidy

A

Chromosomes come from 2 different species to produce a hybrid

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16
Q

Endopolyploidy

A

Only certain cells of an organism are polyploid

Ex- liver cells in humans

17
Q

Deletion

A

Missing part of chromosome

18
Q

Terminal deletion

A

Deletion of the end of a chromosome

19
Q

Intercalary deletion

A

Portion of chromosome forms loop and breaks off of chromosome

20
Q

Formation of deletion loop

A

Occurs during synapsis of a normal chromosome and a deleted one
During synapsis, part of chromosome that is missing in other one bows out (deletion loop)

21
Q

Consequence of deleting a recessive allele

A

Normal dominant phenotype

22
Q

Pseudodominance

A

Deletion of a dominant allele causes unmasking of a recessive allele

23
Q

Haploinsufficiency caused by deletion

A

Deletion reduces gene dosage

24
Q

Acentric chromosome caused by deletion

A

Deletion removes centromere

Nondisjunction results during meiosis

25
Q

Duplication

A

Doubling of part of chromosome

26
Q

Results of unequal crossover

A

2 normal chromatids
1 chromatid with duplication
1 chromatid with deletion

27
Q

Consequences of duplication

A
  1. Synapsis between chromosome with duplication and normal chromosome: chromosome with duplication forms deletion loop, causing it to revert to normal
  2. Gene amplification: more gene product
28
Q

Multigene family

A

Multiple genes with related functions near each other on the same chromosome
Can be result of duplication

29
Q

Paralogs

A

2 or more genes in an organism that have similar or identical function
Result of duplication

30
Q

Ortholog

A

2 or more different genes in 2 different organisms that have the same or similar function
Result of speciation

31
Q

Inversion

A

Segment of chromosome is taken out and re-inserted backwards

32
Q

Paracentric inversion

A

Doesn’t include centromere

33
Q

Pericentric inversion

A

Includes centromere

34
Q

How an inversion might happen

A

Deletion loop forms, breaks off from the chromosome, and then rejoins with the chromosome, resulting in an inverted sequence

35
Q

Consequences of inversions

A
  1. Inversion loops during synapsis: possible deletions and duplications
  2. Position effect: inversion can cause genes to be placed next to more active or less active portions of DNA, changing expression
36
Q

Translocations

A

Piece of 1 chromosome is placed onto another chromosome

37
Q

Fragile sites

A

Narrow sites of some chromosomes

Prone to breakage

Genetics (20 decks)

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