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
deletion example
cystic fibrosis
26
enviormental example
asbestos lung
27
autosomal
located on one fo the numbered chromosomes
28
penetrance
percentage of individuals with genotype and expected phenotype
29
incomplete penetrance
- have the genotype but do not exhibit the phenotype
30
expressivity
- extent of variation in phenotype
31
autosomal dominant example
huntingtons disease
32
autosomal recessice example
- cystic fibrosis - blue eyes
33
x linked recessice example
- color blindness - hemophilia
34
polygenic traits
- trait that is affected by more than one gene e,g. skin color, hair color