Variation In Chromosome Number Flashcards

1
Q

Variations in chromosome number

A
  • aneuploidy: increase or decrease in the number of individual chromosomes
    • eg. Trisomy - 3 copies of a chromosome
  • polyploidy: increase in the number of sets of chromosome
    • eg. Triploid - 3 copies of every chromosome
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2
Q

Aneuploidy (common)

A
  • the 4 most common types of aneuploidy in diploid individuals
    1. Nullisomy: loss of both members of a pair of homologous chromosomes
    2. Monosomy: loss of a single chromosome
    3. Trisomy: Gain of a single chromosome
    4. Tetrasomy: gain of 2 homologous chromosomes
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3
Q

Aneuploidy (less common)

A
  • double monosomic: loss of 2 non-homologous chromosomes

- double trisomic: gain of 2 non-homologous chromosomes

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4
Q

Origins of aneuploidy

A
  1. Non-disjunction in meiosis or mitosis
    • failure of homologous chromosomes or sister chromatids to separate
  2. Deletion of a centromere leads to chromosome loss
  • trisomy may be viable
  • monosomy not viable unless sex chromosome
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5
Q

Aneuploidy: plants

A
  • usually viable

- phenotype maybe altered and increased sterility

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6
Q

Aneuploidy: humans

A
  • trisomy 13: patau syndrome; 1/16,000 newborns
  • trisomy 18: Edwards syndrome; 1/5000 live-born infants
  • trisomy 21: Down syndrome: 1/800 newborns
  • sex chromosome aneuploidies:
    1. Monosomy X (XO): Turner syndrome (1/2500 girls)
    2. Extra X copies: Klinefelter syndrome (1/500-1000 males)
  • chromosomal abnormalities is thought to be the most common cause of spontaneous abortions/miscarriages
  • live birth usually have trisomy of smaller chromosomes or sex chromosomes
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7
Q

Primary Down syndrome

A
  • trisomy 21
  • most cases arise from random non disjunction during meiotic division
  • mother contributes the extra chromosome in 75% of cases
  • incidence of trisomy 21 increases sharply with increasing maternal age
    • possibly due to the fact that eggs are formed at birth, and arrest in the stage of meiosis
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8
Q

Familial Down syndrome

A
  • an extra copy of chromosome 21 is attached to another chromosome (14 or 15)
  • occurs in about 3-4% of cases
  • arise in offspring of parent who carry a chromosome that underwent robertsonian translocation
  • translocation carrier
    • 45 chromosome, one of which is a translocation chromosome
    • normal phenotype, does not have Down syndrome
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9
Q

Polyploidy

A
  • for diploid individuals, polyploidy is the presence of more than two sets of chromosomes
    • triploids: 3n
    • tetrapods: 4n
    • pentaploids: 5n
  • common in plants, less common in animals
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10
Q

Types of polyploidy

A
  1. Autoploidy: multiples of the same genome
    • eg. Autotetraploid: 4n
  2. Allopolyploid: multiple of closely related genomes
    • eg. Allotetraploid: 4n - 2n from species i and 2n from species ii
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11
Q

Origins of autoploidy

A

-nondisjunction of all chromosomes during mitosis can produce autotetraploid

  • nondisjunction of all chromosomes during meiosis produces diploid gametes
    • diploid gamete + normal gamete = autotriploid (3n)
    • diploid gamete + diploid gamete = autotetraploid (4n)
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12
Q

Effects of autopolyploidy

A
  • usually sterile
  • most gametes produced are genetically unbalanced
  • triploid zygotes can produce many possible gametes
    • each gamete can get either one or two copies of each chromosomes in many possible combinations
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13
Q

Generating allopolyploid species

A
  • gametes of 2 species fuse together
  • hybrid is sterile because unbalanced gametes are non-viable
  • but if entire genome is doubled by mitotic nondisjunction, the fertility problem is solved
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14
Q

Significance of polyploids: agriculture

A

-production of larger fruits (strawberries and grapes)

  • production of seedless fruit (sterile)
    • eg. Watermelon, bananas, grapes
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15
Q

Bananas in trouble!

A
  • domestic bananas (3n=33) are derived from 2 wild species: Musa acuminata (A) and Musa Balbisiana (B)
  • most of our bananas are AAA (Gros Michel, cavendish)
  • most plantains ABB or AAB
  • Gros Michel wiped out by panama disease
  • replaced by resistant cavendish
  • new strain of panama disease spreading around world and Cavendish are not resistant
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