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polymorphism and genetics.txt
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What factor can change genotype?
Mutation
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 GM
2
buildup and neural damage
What is a conditional mutation and what is one form of such a mutation?
Is affected by an environmental stimulus.
Cancer
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
Cancer
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?
SNP
STRP
VNTR
CNV
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
?
VNTR
Is RFLP better at excluding or recognizing people?
Excluding people
Author
kepling
ID
52517
Card Set
polymorphism and genetics.txt
Description
Lecture 1:polymorphism and genetics
Updated
2010-12-10T23:22:57Z
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