Chromosomal inheritance Flashcards

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1
Q

What is the difference of meiosis between the two sexes?

A
In males (spermatogenesis):
- symmetrical
In females: 
- asymmetric
- meiosis 1: oocyte (large cell) + polar body (discarded)
- meiosis 2: mature egg + polar body
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2
Q

What are the key points of meiosis (2)?

A
  • Synaptonemal complex: join homologous chromosomes together
  • Chiasma: point of chromosomal crossover
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3
Q

What are the key points of the chromosomal theory of inheritance (2)?

A
  • Genes have specific loci

- Chromosomes undergo segregation on independent assortment

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4
Q

What is lyonisation?

A

The inactivation of one of the x chromosomes via a tightly packed structure (heterochromatin)

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5
Q

What are linked genes?

A

if both genes can be crossed over together (usually close together)

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6
Q

What did Alfred Sturtevant do?

A
  • Used linked genes/ recombinants to create a genetic map

- recombination frequencies reflect distance between gene

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7
Q

If genes are close together they have a higher chance of recombinant events. True or False?

A

False.

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8
Q

What are map units?

A

Distance between genes (1 map unit = 1% RCB frequency)

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9
Q

What is nondisjunction?

A

error in the distribution of chromosomes in meiosis:

  • homologous chrom move apart in M1
  • sister chromatids fail to separate in M2
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10
Q

What is aneuploidy?

A

aberrant gamete: abnormal number of chromosomes

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11
Q

What is Trisomy?

A

triplicate chromosome

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12
Q

What is monosomic?

A

missing chromosome

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13
Q

What is polyploidy?

A

More than 2 chromosome sets

  • Triploidy (3n)
  • Tetraploidy (4n)
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14
Q

Why does polyploidy occur?

A
  • Non disjunction of all chromosomes

- Failure of zygote to divide

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15
Q

What are the 4 alterations to the chromosome structure?

A
  1. Deletion
  2. Duplication
  3. Inversion (reattached in reverse orientation)
  4. Translocation (fragment attached to non homologous)
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16
Q

What are examples of triploidy (2)?

A
  • Down syndrome

- Klinefelter syndrome

17
Q

What are examples of monoploidy (2)?

A
  • Miscarriage

- Tuner syndrome

18
Q

How do you calculate recombination frequency?

A

(# recombinants / total offspring) x 100

19
Q

What are examples of chromosome deletion (3)?

A
  • DiGeorge syndrome
  • Acute Myeloid Leukaemia
  • Turner syndrome
20
Q

What is an example of tetraploidy?

A

Miscarriage

21
Q

What are examples of chromosome translocation?

A
  • Miscarriage

- Acute Myeloid Leukaemia