Lecture 16 Flashcards

1
Q

What is disjunction?

A

The pulling apart of homologous chromosomes or sister chromatids in anaphase I and II

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2
Q

What is meiotic disjunction?

A
  • failure of chromosomes to separate properly
  • in meiosis I, homologous chromosomes don’t separate
  • in meiosis II, sister chromatids don’t separate
  • can occur in mitosis
  • results in wrong number of chromosomes
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3
Q

What is aneuploidy?

A
  • meiotic non-disjunction occurs
  • these gametes fuse with normal gamete to form zygote
  • zygote has abnormal number of chromosomes
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4
Q

What does it mean if a chromosome in monosomic?

A

Missing one chromosome

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5
Q

What does it mean if a chromosome is trisomic?

A

Extra chromosome

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6
Q

What are the genetic characteristics of down syndrome?

A
  • extra chromosome (47)
  • on 21st chromosome
  • autosomal
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7
Q

What is Klinefelter syndrome?

A
  • male with extra x chromosome
  • 47 chromosomes
  • intersex, low testosterone
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8
Q

What is turner syndrome?

A
  • female missing x chromosome
  • 45 chromosomes
  • impact depends on who x chromosome is inherited from
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9
Q

What is polyploidy?

A
  • more than 2 complete chromosome sets
  • may be from non-disjunction of all chromosomes or failure of diploid to divide after replication in G2 interphase
  • many phenotypically normal
  • common in plants
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10
Q

What is a chromosomal deletion?

A
  • part breaks off and becomes missing
  • happens during crossing over
  • creates deletion loop
  • severe effects
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11
Q

What is a chromosomal duplication?

A
  • part of chromosome is present more than once
  • may happen when broken fragment reattaches to as extra segment to a sister or non-sister chromatid
  • harmful effects
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12
Q

What is a chromosomal inversion?

A
  • part of chromosome is inverted
  • breaks at 2 points and inserts as an inverted segment
  • changes order of genes
  • can lead to infertility as homologous chromosomes cannot line up properly for meiosis
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13
Q

What is a chromosomal translocation?

A
  • segment of a chromosome attaches to a non-homologous chromosome
  • don’t change number of genes, but can change gene expression
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14
Q

How does familial down syndrome occur?

A
  • parent is carrier of translocation
  • results in some gametes missing on of chromosome 1
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