Allele Classification Flashcards

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1
Q

Complete Dominance

A

haplosufficient

- 2 or 1 functional allele = phenotype

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2
Q

Recessive

A

0 functional allele = phenotype

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3
Q

Incomplete Dominance

A

haploinsufficient

  • 1 functional allele = 1/2 phenotype
  • property of functional allele – add extra functional allele
  • property of mutant allele – restrict function
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4
Q

Silent Mutation

A

change sequence

NO change polypeptide sequence or phenotype

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5
Q

Misense Mutation

A

change sequence
change polypeptide sequence
change phenotype

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6
Q

Nonsense Mutation

A

change sequence
premature stop codon
change phenotype

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7
Q

Indels

A

Insertions/Deletions

Frameshift – move reading frame = diff codons/aa

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8
Q

Null Loss of Function

A
  • recessive

- completely inactive

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9
Q

Hypomorphic Loss of Function

A
  • recessive

- partially inactive (weaker phenotype)

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10
Q

Loss of Negative Regulation

A
  • dominant

- operator constitutive = always expressed

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11
Q

Ras Growth

A

Ras GTP = growth
Ras GDP = no growth

Ras null loss of function = no growth
Ras stuck to GTP = always grow

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12
Q

Misexpression

A
  • expressed in abnormal region
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13
Q

Dominant Negative

A

complex regulates activity

- protein in complex inactive = WHOLE complex inactive

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14
Q

Cancer

A

1) genetic variation in somatic cells
2) not inherited – inherit greater susceptibility
3) environment –> rate of somatic genetic variation

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15
Q

Functional Allele

A

Proto-oncogene

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16
Q

Loss of Function Allele

A

Tumor Supressor Gene

- 2 somatic rare hits

17
Q

Gain of Function Allele

A

Oncogene

  • RTK = growth w/o ligand
  • Bcl2 = fusion to promoter - overexpression
18
Q

Second Independent Mutation

A
  • different DNA sequence change than inherited
19
Q

Mitotic Recombination

A
  • replicated homologous chromosomes swap genetic material