Mutations And Stuff Flashcards

1
Q

The failure of homologous chromosomes to separate during meiosis

A

Non disjunction

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2
Q

What two conditions result from non disjunction?

A

Monosomy and Trisomy

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3
Q

What is monosomy?

A

A cell is missing a chromosome

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4
Q

What is Trisomy?

A

A cell has an extra chromosome

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5
Q

What is an aneuploid?

A

Any chromosome number that has the wrong number of genes

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6
Q

What does euploidy mean?

A

A balanced set of chromosomes

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7
Q

What is a polyploid?

A

An organism with 2+ copies chromosomes

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8
Q

What is a Triploid

A

An organism with 3 copies

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9
Q

What is a Diploid cell?

A

Normal body cells- 2 copies of each chromosome

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10
Q

What is a haploid cell?

A

Gametes/Sex cells- one copy of each chromosome

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11
Q

What is a Karyotype?

A

A photograph of the chromosomes of a cell, arranged from largest to smallest

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12
Q

What are the only chromosomes not labeled with a number called?

A

Sex chromosomes

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13
Q

A person with Trisomy 22 would have three copies of what?

A

Chromosome 22

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14
Q

What is deletion?

A

A portion of a chromosome is missing

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15
Q

What is duplication?

A

A segment of DNA occurs more than once

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16
Q

What is inversion?

A

A segment of DNA in a chromosome flips upside down, but remains in place.

17
Q

What is translocation?

A

Genes from one chromosome are transferred to another, non-homologous chromosome

18
Q

What does a square mean in pedigrees?

A

Male

19
Q

What does a circle mean in pedigrees?

A

Female

20
Q

What does partial colour mean in pedigrees?

A

Carriers/heterozygotes

21
Q

Blank/no colour in pedigrees mean?

A

Unaffected/ without trait

22
Q

What does autosomal mean?

A

Not sex linked

23
Q

What is X-linked?

A

-generally only males have it
-can be hidden in generations

24
Q

Y-linked

A

-only pass from father son
-only males affected

25
Q

Mitochondrial maternal

A

-stops at male
-passes to every child she has
-every mother will pass to EVERY one of her children