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Pathophysiology > Genetics > Flashcards

Genetics Flashcards

1
Q
A
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2
Q

euploid

A
  • correct number of chromosomes
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3
Q

haploid

A
  • single chromosomes
  • gametes
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4
Q

diploid

A
  • paired chromosome
  • somatic cells
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5
Q

Polyploid

A
  • more than the diploid number of each chromosome
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6
Q

triploid

A
  • 3 copies
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7
Q

tetraplois

A

4 copies

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8
Q

aneuploidy

A
  • only 1 chromosome affected
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9
Q

trisomy

A
  • 3 copies
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10
Q

monosomy

A
  • 1 copy
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11
Q

down syndrome characteristics

A
  • decreased intellectual abilities, low nasal bridge, protruding tongue, low set ears, poor muscle tone, short stature
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12
Q

Klinefethers syndrom

A

at least 2 X and 1Y chromosome

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13
Q

klinefelters syndrome characteristics

A
  • moderate degree of mental impairment, usually male appearance, high pitched voice
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14
Q

turners syndrome

A

monosomy X chromosome

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15
Q

turners syndrome characteristics

A
  • most die in utero
  • medical and developmental problems, short height, failure of ovaries to develop, heart defects
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16
Q

genotype

A
  • exact pairing of alleles
17
Q

physnotype

A
  • physical apperance
  • expression of the trait
18
Q

homozygote

A

copies of the same allele

19
Q

heterozygote

A

two diffrent alleles

20
Q

mutation

A
  • inhertited alteration of genetic material
21
Q

substitution

A
  • sequence of neucleotides in the wrong position
22
Q

deletion

A

DNA material not copied

23
Q

enviormental

A
  • adhere to DNA and RNA and induce changes in shape causing deletion or substitution
24
Q

substitution example

A

sickle cell anemia

25
Q

deletion example

A

cystic fibrosis

26
Q

enviormental example

A

asbestos lung

27
Q

autosomal

A

located on one fo the numbered chromosomes

28
Q

penetrance

A

percentage of individuals with genotype and expected phenotype

29
Q

incomplete penetrance

A
  • have the genotype but do not exhibit the phenotype
30
Q

expressivity

A
  • extent of variation in phenotype
31
Q

autosomal dominant example

A

huntingtons disease

32
Q

autosomal recessice example

A
  • cystic fibrosis
  • blue eyes
33
Q

x linked recessice example

A
  • color blindness
  • hemophilia
34
Q

polygenic traits

A
  • trait that is affected by more than one gene
    e,g. skin color, hair color

Pathophysiology (22 decks)

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