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Pathophysiology > Genes/Genetic diseases > Flashcards

Genes/Genetic diseases Flashcards

1
Q

DNA is held together in what way?

A

Double-helix model

Complementary nitrogenous bases (A-T G-C) bind to one another

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2
Q

What are mutations?

What causes them?

A

Inherited alteration of genetic material

Caused by mutagens like radiation

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3
Q

Where do DNA replication and protein synthesis occur?

A

DNA replication occurs in nucleus

Protein synth: starts in nucleus and finishes in cytoplasm

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4
Q

What are the two types of human cells?

A
  1. Somatic cells: All cells other than gametes
  2. Gamete cells: Sperm and egg cells
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5
Q

What type of cells are somatic cells?

Gametes?

A
  • Somatic cells are diploid cells (Contain 23 chromosome pairs)
  • Gametes are haploid cells (contain only one member of 23 chromosomes)
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6
Q

What is the difference between homologous and non-homologous chromosomes?

A
  • Homologous= Chromosome pairs with same genes at same locus (location)
  • Non-homologous= Pairs with different genes at same locus
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7
Q

What are autosomes?

Homologous or non?

A
  • First 22 pairs of chromosomes
  • Homologous
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8
Q

What are the sex chromosomes?

Homologous or non?

A

23rd pair in humans

In females, they are homologous (XX)

In males, they are non-homologous (XY)

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9
Q

What process produces somatic cells?

What process produces gametes?

A

Somatic cells produced by mitosis

Gametes produced by meiosis

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10
Q

What are Karyotypes?

A

Ordered display of chromosomes arranged in order of decreasing size

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11
Q

What does euploidy refer to?

A

The normal number of chromosomes within a cell

(ex: 46 in humans)

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12
Q

What does aneuploidy refer to?

What do these cause?

A

Abnormal number of chromosomes in cell that usually result in genetic disorders

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13
Q

What are polyploid cells?

A

Cells that have more chromosomes than the diploid number

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14
Q

What are triploidy cells?

What are tetraploidy cells?

What do these conditions normally result in?

A

Triploidy= Zygote that has three copies of each chromosome (69 total)

Tetraploidy= Four copies of each (92 total)

  • Stillbirths/miscarriages
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15
Q

What are aneuploidy cells?

A

Cells that do not contain a multiple of 23 chromosomes (45 or 47 total)

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16
Q

What are trisomic cells?

A

Cell containing three copies of one chromosome

17
Q

What is monosomy?

what results?

A

Presence of only one copy of any chromosome

Often lethal

18
Q

Down syndrome

How does it occur?

What increases the risk of it?

A
  • Trisomy of chromosome 21
  • Risk increases with mother age
19
Q

Down Syndrome

  • _​_What are common characteristics?
A
  • mentally challenged, low nasal bridge, poor muscle tone
20
Q

Turner syndrome

  • What causes it?
  • Characterisitics?
A
  • Females with only one X chromosome usually inherited from mother
  • Short, sterile, underdeveloped breasts
21
Q

Klinefelter syndrome

  • What causes it?
  • Characteristics?
A
  • Individuals with at least two X and one Y chromosome
  • Male appearance, breasts, small testes
22
Q

What are deletions in chromosome structure?

A

breakage of chromosome or loss of DNA

23
Q

What are duplications in chromosome structure?

  • are deletions or duplications worse?
A

Repeated gene or gene sequence

  • Deletions are worse: better to have more than less
24
Q

What are inversions of chromosome structure?

  • When do they typically occur?
A

Reversed genetic material (ABC - CBA)

  • Breakage that gets reversed during reattachment
25
Q

What effects are sustained as a result of chromosomal inversions?

A
  • No loss or gain of material
  • no physical defects
26
Q

What are translocations in chromosome structure?

A

The switch of genetic material between two nonhomologous chromosomes due to breaks.

27
Q

What is fragile sites on chromosomes?

  • Do they typically result in anything?
A

areas of chromosomes that develop breaks or gaps

  • No relationship to disease except for fragile x syndrome?
28
Q

What is fragile x syndrome?

Who does it most commonly affect and what are the symptoms?

A

fragile site on X chromosome due to weak areas

  • Higher incidence in males
  • second highest genetic cause of mental retardation

Pathophysiology (16 decks)

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