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Pathophysiology (Weeks 1-6) > Lectures 4&5 > Flashcards

Lectures 4&5 Flashcards

0
Q

What are the 2 base pairs?

How many base pairs in each human cell?

A
  • A-T & G-C

- 3 billion

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1
Q

How do genes and traits affect one another?

A
  • Any trait can be affected by more than one gene.

- One gene can affect more than one trait.

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2
Q

How many chromosomes?

What are the sex chromosomes for male and female?

A
  • 2 sets of 23

- Male-XY, Female- XX

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3
Q

What is mutation?

A

Any inherited alteration of genetic material.

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4
Q

Chromosomal disorders are the leading cause of what?

A

Intellectual disability and miscarriage.

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5
Q

What is aneuploidy and how does it occur?

A

Abnormal number of chromosomes, due to translocation or non-disjunction.

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6
Q

What is non-disjunction?

A

Chromosomes not separating properly during meoisis.

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7
Q

What is aneuploidy?

A

A somatic cell that does not contain a multiple of 23 chromosomes.

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8
Q

What is trisomy?

A

A cell containing three copies of one chromosome.

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9
Q

What is monosomy?

A

The presence of only one copy of any chromosome.

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10
Q

What is an example of autosomal aneuploidy?

A

Down syndrome.

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11
Q

Trisomy 18 is also known as what?

A

Edwards syndrome.

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12
Q

Trisomy 13 is also known as what?

A

Patau syndrome.

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13
Q

Does Turner syndrome affect males or females?

A

Females.

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14
Q

Does kleinfelter syndrome affect males or females?

A

Males.

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15
Q

List and describe the 2 abnormalities of chromosomal structure.

A
  • Deletion, the chromosome breaks in two places and a segment is missing when the break is repaired.
  • Duplication, adjacent, tandem or reverse depending on orientation.
16
Q

What is translocation?

A

Two chromosomes break at different points, the deleted section from one chromosome attaches to the other chromosome.

17
Q

List and describe the 2 ways in which the abnormalities of the chromosomal structure occur.

A

Insertion- The region deleted from one chromosome may end up as an insertion into another.

Inversion- A broken part of the chromosome is reattached to the same chromosome, but in the reversed order.

18
Q

How do mutations occur, and which form of mutation is inherited and which is not?

A
  • Mutations result from changes in DNA sequence.

- Germ line is inherited, Somatic is not.

19
Q

List the 3 “Point mutations”

A
  • Silent
  • Nonsense
  • Missense
20
Q

List the seven effects of mutation.

A
  1. Lethal
  2. Conditional
  3. Loss of function
  4. Gain of function
  5. Null
  6. Suppressor
  7. Silent
21
Q

What is genotype?

A

The genetic makeup of an organism.

22
Q

What is phenotype?

A

The observable appearance of the genetics of an organism.

23
Q

What are the 5 modes of inheritance?

A
  • Autosomal recessive
  • Autosomal dominant
  • X-linked dominant
  • X-linked recessive
  • Y-linked

Pathophysiology (Weeks 1-6) (8 decks)

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