Chromosomes, Pedigrees and Mutations 3.5 U3 Flashcards

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1
Q

When is crossing over common?

A
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2
Q

When is crossing over rare?

A
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3
Q

What is gene linkage?

A

Genes on the same chromosomes can “break” the law of independent assortment
The closer together they are, the most likely they are to be “linked”
Unlikely to be split apart during crossing over in Meiosis I

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4
Q

What is the law of independent assortment?

A

Alleles get independently assorted

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5
Q

How are gene map units created and used?

A

Crossover frequencies can be converted into map units.
We can use the frequency of crossing-over to determine the relative distance between genes on the same chromosome.

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6
Q

What is the purpose of Human Pedigrees?

A

Shows presence or absence of a trait according to relationships within a family across generations

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7
Q

Autosomal Inheritance Dominant Traits? EX

A

every individual with the trait must have a parent with it
without any other context, shading = AA or Aa

Example = Huntington’s disease

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8
Q

Autosomal Inheritance Recessive Traits? EX

A

individual with the trait may or may not have a parent with it
without any other context, shading = aa
Non-shaded could be AA or Aa!
Example = Sickle Cell Anemia

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9
Q

X-Linked Dominant Traits? EX

A

females are more likely to show dominant traits
shading = XAXA, XAXa, XAY

Example = X-linked hypophosphatemia (XLH)

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10
Q

X-Linked Recessive Traits? EX

A

males are more likely to show recessive traits
shading = XaXa, XaY
Non-shaded could be XAXA, XAXa, or XAY
Example = Red-green colorblindness

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11
Q

What is a mutation?

A

A change in the genetic material

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12
Q

What are two main types of mutation?

A

Gene mutation
Chromosomal mutation

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13
Q

What is Locus?

A

Location of gene or DNA sequence

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14
Q

What is Germ-line mutation?

A

From gametes

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15
Q

What is Somatic Mutations?

A

Not gametes

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16
Q

What is wild type protein?

A

normal protein

17
Q

What is point mutation?

A

a change in one base pair of the sequence

18
Q

What are the types of point mutations?

A

Silent, Missense, Nonsense

19
Q

What is Silent Mutations?

A

Has no effect on the protein sequence

20
Q

What is Missense Mutations?

A

Results in an amino acid substitution

21
Q

What is Nonsense Mutations?

A

substitutes a stop codon for an amino acid

22
Q

What is Frameshift Mutations?

A

A deletion or insertion of bases can cause a frameshift

23
Q

What can Cause Mutations?

A

Spontaneous Mutations
errors in DNA replication, etc.
Induced Mutations
caused by mutagens

24
Q

What are some examples of disorders caused by mutations?

A

Sickle Cell Disease, Huntington’s Disease

25
Q

What is Sickle Cell Disease?

A

Single gene mutation (point - substitution)
Hemoglobin-Beta gene on chromosome 11
Autosomal recessive
“Heterozygous advantage”

26
Q

What is Huntington’s Disease?

A

Insertion of “CAG” repeats in gene for a protein in brain neurons
Chromosome 4
Autosomal dominant

27
Q

What is a human karyotype?

A

A human karyotype shows 22 pairs of autosomes and 1 pair of sex chromosomes.

28
Q

When does non-disjunction happen and also what is it?

A

Could happen in M1 or M2
If in M1 then no normal cells
If in M2 then half normal cells
Is improper splitting of chromosomes

29
Q

What is Monosomy?

A

1 copy

30
Q

What is Trisomy?

A

3 copies

31
Q

What is Aneuploidy?

A

An abnormal number of chromosomes

32
Q

What is Polyploidy?

A

Having more than two complete sets of chromosomes
Relatively common in plants, but rare in animals!

33
Q

What is X-Chromosome Inactivation

A

In females, one X chromosomes is “switched off” and forms a Barr Body

34
Q

What are lethal traits?

A

A trait in which a homozygous dominant individual does not survive.
This affects probability estimates!