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Point mutations
that is changes at the base pair level within a gene or its control regions
transition mutation
occurs when one purine is replaced by the other purine (A ↔ G), or one pyrimidine is replaced by the other pyrimidine (T ↔ C)
transversion mutation
a purine is replaced with a pyrimidine, or vice versa
Silent Mutation
often have no effect on the amino acid that is incorporated into the final protein
Missense mutation
a change in an amino acid
Non sense mutation
. A base change that results in a stop codon (UAA, UAG, or UGA)
frameshift mutation
can dramatically alter the amino acid makeup of the protein. It also often results in a stop triplet (a nonsense mutation) soon after the point of the frameshift and leads to early termination of translation
Neutral mutation
A change from one small hydrophilic amino acid to another in a non active part of the protein is a real change, but it is unlikely to have much impact
Mutation frequency
refers to the proportion of alleles of a given type in the gene pool.
Mutation rate
refers to the rate at which new mutant alleles are formed, and it is reported at different scales.
Genetic damage rate
is the rate at which errors occur during the process of DNA replication
mutational event rate
measures what is left after repair has taken place.
Polymorphism
occurs when the most common allele is at a frequency of less than 99%. any gene or nucleotide in which more than one form is found in the population
Depurination
an adenine or a guanine base is removed from a nucleotide, leaving the sugar phosphate backbone intact, and the partner nucleotide temporarily unpaired.
Deamination
occurs when an amino group is removed from cytosine, produces uracil
Tautomeric Shifts
involves a reversible change in hydrogen that alters the nucleotide base to a different isomer.
Germinal mutations
passed in eggs or sperm to affect development of an offspring
Somatic Mutations
mutations in cells within the body well after birth
Molecular Decay
The assumption is that over time, with enough replications, a mistake will eventually occur for no apparent reason
Mutagens.
are any agent that can induce or increase the overall rate of new mutations
Carcinogen
is an agent that can induce or increase the risk of cancer
Teratogens
are external agents that can result in congenital anomalies if a developing fetus receives a significant exposure
pedigree
a series of Mendelian genetic crosses involving relatives
Proband
is the first member in a family to be evaluated by the physician
First Degree
parents, siblings, offspring of the proband
Second Degree
grandparents, grandchildren, uncles, aunts, nieces, nephew
Third Degree
cousins, etc.
Consanguinity
is defined as the mating of two closely related individuals
Deleterious mutation
The amino acid mutation wherein one or more nucleotides are missing, altering biological functions
Deletion Mutation
The frameshift mutation wherein it deletes a nucleotide, resulting in a backward shift
Ames Test
Uses back mutation. Culture bacteria having nutritional deficiency. Very effective assay for potential mutagenic agents
Seven locus test
Seven easily identifiable recessive mutations. It is more expressive
X linked lethal assay
X rays are mutagenic. Used to screen for hazardous mutagenic chemicals from industrial by products and for other experimental questions