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34 Cards in this Set
- Front
- Back
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The word locus and _____ are usually used interchangeably.
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gene
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Define:
Locus |
A gene's physical position on a chromosome
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Define:
Mutation |
Change in genetic information that is passed on to other cells.
Can have minor or severe effects on phenotype. |
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True/False:
Mutations occur because an organism "needs" them. |
False!
The mutation occurs first, then the organism with the mutation is better or worse off. |
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Define:
Point Mutation |
A single nucleotide substitution.
Forms a new allele |
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Define:
Allele |
One particular form of a gene
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Define:
Polymorphic |
Multiple alleles coexist within a species at the same time.
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Define:
Monomorphic |
A base pair or locus with no variation
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Define:
"Wild Type" allele |
The most common phenotype or allele in nature
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Define:
"Mutant" allele |
Alternate forms to wild type
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Define:
SNP's |
SNP = Single Nucleotide Polymorphisms
Polymorphic point mutation sites |
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Define:
Transition Mutations |
A purine is replaced by a different purine, or a pyrimidine is replaced by a different pyrimidine.
A <--> T C <--> G |
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Define:
Transversion Mutations |
A purine is replaced by a pyrimidine (or visa-versa).
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Which are occur more frequently and why:
Transversion Mutations or Transition Mutations |
Transition Mutations occur more frequently because the genetic code is redundant, and they are less likely to cause an amino acid change.
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Define:
Silent Mutations |
Have no effect on amino acid composition
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Define:
Nonsense mutation |
Creates a new stop codon
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Define:
Missense mutation |
Changes amino acid sequence in protein
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What is a "real life" example of a:
Nonsynonymouse mutation? |
Sickle-cell anemia
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What is a "real life" example of a:
Point mutation? |
PKU - Phenylketonuria
Characterized by a deficiency in the enzyme phenylalanine hydroxylase. Can lead to progressive mental retardation and seizures. |
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Define:
Tandem duplication |
A type of chromosomal mutation.
Duplication region is immediately adjacent to what was duplicated. |
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Define:
"motif" |
Refers to the sequence of a chromosome that has been duplicated during tandem duplication.
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Define:
Microsatellite |
A description of tandem duplication where the base pair motif is < 10 base pairs long.
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Define:
Minisatellite |
A description of tandem duplication where the base pair motif is 10 - 60 base pairs long
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Define:
Displaced duplication |
A type of chromosomal mutation.
Duplication does not occur in the region adjacent to what was duplicated. |
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Define:
Reverse duplication |
A type of chromosomal mutation
Duplication is inverted |
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Define:
Deletion |
A type of chromosomal mutation.
Loss of a chromosome segment. |
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Define:
Inversion |
A type of chromosomal mutation.
Order for a gene or group of genes is reversed. |
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Define:
Paracentric inversion |
A type of chromosomal mutation.
Inversion that does *not* include the centromere |
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Define:
Pericentric inversion |
A type of chromosomal mutation.
inversion that *does* include the centromere |
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Define:
Reciprocal translocation |
A type of chromosomal mutation.
Genetic material is exchanged between two chromosomes |
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Define:
Nonreciprocal translocation |
A type of chromosomal mutation.
Genetic material is not exchanged between two chromosomes i.e. the translocating only goes one direction. |
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Define:
Robertsonian translocation |
Break point close to centromere creates a very long chromosome.
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Define:
Aneuploidy |
A change in the number of *individual* chromosomes.
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Define:
Polyploidy |
A change in the number of chromosome *sets*
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