polymorphism and genetics.txt
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What factor can change genotype?
What two factors influence phenotype?
- 1) Genotype
- 2) Environment
What is a transition point mutation?
- Purine - Purine
- Pyrimidine - Pyrimidine
What is a transversion point mutation?
Purine - pyrimidine (and vice a versa)
What is a missense mutation?
Point mutation resulting in the change of an amino acid
What is a silent mutation?
Point mutation that does not change the amino acid
What is a nonsense mutation?
Point mutation that creates a stop codon (UAA, UAG, UGA)
What is a frameshift mutation?
When there is a deletion or insertion in a chain that is not a multiple of three.
What is a lethal mutation and what is one example of a lethal mutation?
- Generally homozygous dominant
- Cause death before birth or shortly after
- Tay-Sachs is an example because of the GM2 buildup and neural damage
What is a conditional mutation and what is one form of such a mutation?
- Is affected by an environmental stimulus.
What is a loss-of-function mutation and what is an example of such mutation?
- Generally recessive
- A complete or partial loss of the function enough so that the phenotype (trait) changes
- Hemophilia B and Cystic Fibrosis
What is a gain-of-function mutation and what is an example of such mutation?
- When a protein is reproduced or produced novely
What is a dominant negative mutation? Example?
- mutated gene that blocks normal gene activity
- Occur in multimers
- Congenital malformations
What is haploinsufficiency? Example?
- When loss-of-function produces phenotype in hetero- and homo- (50% expression of enzyme)
- Lack of sufficient enzyme activity
- Familial hypercholesterolemia
What is an epigenetic change? Example?
- Not true mutations, alterations in phenotype without true genotype mutation.
- Cannot be inherited.
- Generally is a methylation on DNA
What is the main difference between a mutation and a polymorphism?
- Mutations= infrequent and associated with a disease
- Polymorphism= DNA variation that is common in population and does not result in a disease
What are the four types of Polymorphisms?
What is the characteristic of SNP?
One nucleotide change
What is the characteristic of STRP?
2-5bp repeats in tandem
What is the characteristic of VNTR?
14-500 bp repeats in tandem
What is the characteristic of CNV?
1000s of bp repeats in tandem
What is the one polymorphism that serves as a molecular fingerprint?
Is RFLP better at excluding or recognizing people?
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