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Any change in DNA sequence Mutation
An entity that posssesses a mutation. Mutant
Not mutated, standard form found in nature Wild Type
Mutation type, Sequence change with no phenotypic affect, Examples include, third base of a wobbly codon, intron spliced out of a message, a similar amino acid with the same effect on the protien function Silent Mutation
Mutation type, Alteration of one codon usually due to a single base pair substitution Point Mutation
A type of point mutationin which a pyrimidine is substitude for a pyrimidine or a purine for a purine Transition
A type of point mutation in which a pyrimidine is substiute for a purine or a purine for a pyrimidine Transversion
A type of point mutation in which a single base pair substitution alters one amino acid Missense Mutation
A type of point mutation in which a base pair substitution produces a premature stop codon, resulting in a truncated polypeptide Nonsense mutation
A type of point mutation that involves the insertion or deletion of a sequence that is not a multiple of three, so that the codon reading fram is altered and random amino acid sequence is produced beyond the change Fram Shift mutatiion
Any gross change in chromosome structure, large neough to be observed under a light microscope Chromosomal Aberrations
A mutation where sequence is lost Deletion
A mutation where sequence is added Insertion
An insertion where a sequence is copied Duplication
Misplacement of a DNA fragment to a differnt location of the genome, either in a different spot on the same chromosome or a different chromosome Translocation
When a DNA fragment is excised and inserted back inot the same chromosome in opposite orientation Inversion
Inversion of the center of chromosome 3, including the centromere Chromosome 3 Duplication-Deletion Syndrome
Defects are seen in the second generation of offspring. Half die. Symptoms include gneral delay in development, recurrent urinary, repiratory and eye infections, numerous head and facial abnormalities preventing the children from sucking. Chromosome 3 duplication-Deletion Syndrome
Deletion of part of the short arm of chromosome 5 cri-du-chat syndrome
Infant or early childhood fatality. Plaintive catlike meowing cry, microcephaly, broad face, saddle nose, wide eyes, mental retardation cri-du-chat syndrome
The number of sets of parental chromosomes Ploidy
to have more sets of chromosomes then normal Polyploidy
Some triploidies will develop into partial Hydatidiform moles
Develop from eggs that lose their maternal nucleus and are fertilized by two sperm resulting in all paternal and no maternal genes Hydatidiform mole
If a mole is not aborted, it can develop into a malignancy known as Choriocarcinoma
to have the wrong number of chromosomes in a parental set. One or more chromosomes are added or removed Aneuploidy
To have three copies of a chromosome Trisomy
To have one copy of a chromosome Monosomy
A failure of chromatids to separate during meiotic anaphase. Nondisjunction
Trisomy 21 Down Syndrome
Short stature, epicantal eylid folds, broad skulls, large tongues, loose joints, stubby hands with simian crease, single crease of the fifth digit, mental retardation Down syndrome Trisomy 21
Trisomy 18 Edward Syndrom
95% of births perish within one year. Clenched fists 2nd digit overlaps 3rd, 5th overlaps 4th, rocker bottom foot, prominent occiput, micrognathia, short sternum, narrow hips, low faunlike ears, profound mental retardation Edward Syndrom Trisomy 18
Trisomy 13 Patau Syndrome
Holoprosencephaly, cleft palate, prominent proboscis, polydactly, rocker bottom foot, seizures Patau Syndrome Trisomy 13
Monosomy of the X chromosome (XO). Turner syndrome
Females, no ovaries, limited secondary sexual characteristics, short stature, low-set ears, webbed neck, broad chest, widely spaced nipples, no mental retardation Turner syndrome Monosomy of the X chromosome
An extra X chromosome (XXY) Klinefelter Syndrome
Males with some femal secondary characteristics such as gynomastia, underdeveloped male characteristics, no mental retardation. Those with more than two X have emntal retardation. Klinefelter syndrome Extra X chromosome
Slightly reduced IQ, little to no physical abnormalities, minor learning disabilities. Increase incidence in prison populations due to behavior abnormalities such as hyperactivity and ADD, but no predisposition to violence Extra sex chromosomes, XYY,
Mutagenic processes occuring naturally within the cell Endogenous
A displaced exchange of strands during crossing over, so that a sequence is deleted from one homolog and duplicated in the other Unequal Crossing Over
Inherent error rate of 1 mismatch per 10^9 to 10^10 replicated base pairs DNA Polymerase Indifelity
A naturalliver function for the removal of toxins. It oxidized dydrophobic compounds to make them water soluble so they can be excreted in the urine. It periodicalyy makes innocuous product mutagenic Cytochrome p450 system
Release of a purine by cleavage of teh bond with the 1' site of ribose. If the damage is not repaired before the next round of DNA replication, then any of the four bases will be incorporated into the new strand at random Depurination
Removal of an amino group from a base by oxidation to a keto group. With A or C this will result in a transition mutaion during the next round of DNA replication. Deamination
Transient changes in teh electron configuartion of a base, causing it to resemble another base. Tautomeric Shifts
Mutagenic agents that are foreing factors affecting the cell Exogenous
A low energy form of electromagnetic radiation that most often causes thymine dimers. Ultraviolet light
Higher energy electromagnetic ratiation that causes excision of electrons, producing highly reactive, ionic atoms. Mostly produces point mutations Ionizing radiation (alpha or beta particle, X rays)
An extremely high energy form of electromagnetic radiation that breaks DNA strands. Tends to produce chromosomal aberrations. Gamma rays
These add one or two carbons (methyls or ethyls) to DNA. This interferes with DNA replication, causing point mutations and chromosomal aberrations. Alkylating agents (e.g. nitrogen mustard)
These mimic nucleotides, inducing base pair substitutions. Base analogs (e.g. 5-bromouracil)
These are multi ring structures that wedge themselves between the bases of the DNA. This creates tension in the strands, resulting in chromosomal aberrations during DNA replication. INtercalating agents (acridine orange, proflavin)
DNAs with the ability to integrate into a chromosome and to be excise from a chromosome. When they integrate into a gene thy can disrupt its function (insertional mutagenesis). When they are excised they often leave deletions or insertions behind. Insertion elements (viruses and transposons)
What are the four categories of DNA repair mechanisms DNA polymerase proofreading, Ligation of strand breaks, Direct base repair, Excision repair
Enxyme that nicks the phosphodiester bond at the 5' end of the thymine dimer. Endonuclease
A disease that is produced by defective UV specific endonucleases Xeroderma pigmentosum
This disease results in extensive skin tumors after exporuse to sunlight. Xeroderma pigmentosum
Created by: mhaynes