Chromosomal Mutants Flashcards

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1
Q

Karyotype

A

Metacentric – middle
Submetacentric – close to middle
Acrocentric – close to end
Telocentric – end

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2
Q

Chromosomal Deletions RF

A

no recombination in deletion

  • crossovers closer together
  • higher RF
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3
Q

Chromosome Deletions Recessive Alleles

A

genes lost in deletion = null loss of function alleles

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4
Q

Chromosome Deletion Polytene Chromosomes

A

bubble

- bottom strand = deletion

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5
Q

Chromosome Deletion PCR Analysis

A

primers closer together b/c deletion

- see product from deletion chromosome

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6
Q

Chromosome Duplications - Types

A
Tandem = close + direct
Displaced = far + direct
Reverse = close + inverted
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7
Q

Chromosome Duplication Polytene Chromosomes

A

bubble

- top strand = duplicated

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8
Q

Paracentric Inversion

A
  • NOT include centromere
  • centromeres pulled apart on same strand
    DRAW OUT
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9
Q

Pericentric Inversion

A
  • include centromere
  • centromeres pulled apart on opposite strands
    DRAW OUT
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10
Q

Effect of Inversions/Translocations

A
  • next to new DNA
  • split DNA into 2 loss of functions
  • recombination in inversion = non-viable gametes
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11
Q

Non-Reciprocal Translocation

A

region of one chromosome insert into another

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12
Q

Reciprocal Translocation

A

regions of chromosomes switched btwn pair of homologous chromosomes

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13
Q

Reciprocal Translocations - Adjacent 1

A
  • horizontal division

- inviable gametes = missing info

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14
Q

Reciprocal Translocations - Adjacent 2

A
  • vertical division

- inviable gametes = missing info

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15
Q

Reciprocal Translocations - Alternate segregation

A
  • translocated chromosomes one way
  • normal chromosomes other way
  • viable gametes = all info
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16
Q

Aneuploidy Types

A
Normal = 2n 
Nullsomy = 2n-2 (loss of one homologous chromosome)
Monosomy = 2n-1 (loss of single chromosome)
Trisomy = 2n+1 (extra chromosome)
Tetrasomy = 2n+2 (extra pair chromosomes)
17
Q

Mitotic Nondisjunction

A

both sister chromatids pulled to one pole

18
Q

Nondisjunction of X Chromosome

A

Male = loss of function allele

- gynandromorphs

19
Q

Nondisjunction at Meiosis I

A

gametes –> fertilized

  • 2 trisomy (both homologs)
  • 2 monosomy
20
Q

Nondisjunction at Meiosis II

A

gametes –> fertilized

  • 2 normal
  • 1 trisomy (one homolog)
  • 1 monosomy
21
Q

Uniparental Disomy

A
  • only 1 parent heterozygous for mutant –> progeny have both mutant alleles
  • nondisjunction at meiosis II
  • 1 trisomy (one homolog – 2 mutant allele)
  • nondisjunction = 2 mutant alleles + normal allele
22
Q

Polyploidy

A

Genome duplications

  • change in #of sets of chromosomes
  • 2n –> 3n –> 4n
23
Q

Autopolyploidy - Mitotic

A
  • 2n
  • replicate
  • Colchicine (MT inhibitor) = no division
  • 4n
24
Q

Autopolyploidy - Meiotic

A

2n –> duplicate

  • no segregate at meiosis I (all to one pole)
  • meiosis II – 2 gametes (2n)
  • fertilization = triploidy (3n) —- unbalanced/inviable
25
Q

Allopolyploidy

A
  • fusion gametes 2 distinct species
  • hybrid (haploid each chromosome) (2n)
  • meiosis = inviable gametes (no homologous)
26
Q

Amphidiploid

A

hybrid (2n) –> colchicine induce autopolyploidy –> 4n

  • meiosis = viable gametes (homologous pair)