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17 Cards in this Set
- Front
- Back
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Chromosome mutations
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loss-deletion of region or whole chromosome
relocation-123-->132(from another chromosome) gain-duplication or extra chromosomes |
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Changes in chromosome number
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-human health impact
-plant evolution and agriculture |
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Euploid
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whole multiple (n, 2n,3n,4n, etc)
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monoploid
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n (male bees and male ants)
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polyploids
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(x)n
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Autopolyploids
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from one organism
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Allopolyploids
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from several organisms
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Odd numbers
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often sterile
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Amphidploid
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Allopolyploid that is fertile (2n + 2n = 4n)
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Aneuploidy
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-different in just one part
-causes: first division, non disjunction (don't line up right during division) |
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Monosomic
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2n-1
Turner syndrome- 1/5000 female births (X-) |
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Trisomic
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2n+1, usually inviable in diploids
Klinefelter syndrome (XXX or XXY) Down syndrome- extra 21 chromosome Patau (13), Edwords (18) |
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Gene Balance
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-polyploidy better tolerated than aneuploidy because of gene ratios (4:4 vs 4:1)
-similar to dosage compensation |
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Chromosome structure rearrangements (caused by DNA breakage)
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deletion: 1234-->134
duplication: 1234-->12234 inversion: 1234 --> 1324 translocation: 1234, 5678--> 178, 56234 |
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Cri du Chat syndrome
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-heterozygous deletion
-small head and retardation |
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williams syndrome
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-heterozygous deletion on chromosome 7 (17 genes)
-mentally impaired, chatty, musically inclined, distinct appearance |
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15% of conceptions spontaneously abort
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1/2 of these chromosomally abnormal
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