Term
|
Definition
| changes in nucleotide sequence, no known cause and occur during replication |
|
|
Term
|
Definition
| the sex cells are mutated and is heritable to next generation |
|
|
Term
|
Definition
| all other cells except sex cells ar emutated, mostly spontaneous but is generaly not transitted to next generation |
|
|
Term
|
Definition
| the result of external factors |
|
|
Term
|
Definition
| organisms can turn on or turn off mutations dependon on environmental factors |
|
|
Term
|
Definition
| organisms in situations that need mutations to enhance their chance for survival |
|
|
Term
|
Definition
| mutations that happen on the x chromosome |
|
|
Term
|
Definition
| mutations that happen on the remaining 22 chromosomes |
|
|
Term
|
Definition
| Change in one base that will rresult in the change of the heterocyclic base pair |
|
|
Term
|
Definition
| when a change in one nucleotide results in the change in codon which codes for a different amino acid |
|
|
Term
|
Definition
| when one nucleotide is change d and accidently codes for a stop codon which does not allow for the protein to be finished, so it will not be active |
|
|
Term
|
Definition
| changes one base, but still codes for the same amino acid, no problems |
|
|
Term
|
Definition
| one pyrimidine replaces a pyrimidine or one purine replaces a purine |
|
|
Term
|
Definition
| a pyrimidine replaces a purine |
|
|
Term
|
Definition
| one or more bases are inserted or deleted from teh DNA code (usually in factors of threes, bc that would be eidited out) |
|
|
Term
|
Definition
| the result of point muations and framshift mutations |
|
|
Term
|
Definition
| when an entire protein doesn't work |
|
|
Term
|
Definition
| doesnt work correctly because doesnt form correct shape but can still fit in active site so it inhibits work |
|
|
Term
| Non competitive inhibition |
|
Definition
| misshapen protein doesnt bind to active site but to another enazyme causing achange in shape and function |
|
|
Term
| Gain of function mutations |
|
Definition
| if mutation make enzyme work more efficient |
|
|
Term
|
Definition
| mutation does not change the phenotype or affects any product that is produced |
|
|
Term
|
Definition
| loses ability to synthesize amino acids or vitamins |
|
|
Term
| Phenylalanine hydroxylase (PAH) |
|
Definition
| this loses the ability to break down phenylalanine to tyrosine is defective in PKU |
|
|
Term
|
Definition
| a structural deformity causing you to lose function in your body |
|
|
Term
|
Definition
| causes a change in mating behavior in animals |
|
|
Term
|
Definition
| occurs in regulatory gene |
|
|
Term
|
Definition
|
|
Term
|
Definition
| In Tay-Sachs, this gene located on chromosome 15 incorrectly codes for alpha-Nacetyle-hexa aminidase |
|
|
Term
| alpha-N-acetyl-hexosaminidase A |
|
Definition
| enzyme coded on chromosome 15 and found in GM2 to GM3 |
|
|
Term
|
Definition
| Broken down by alpha-N-acetyl-hexosaminidase A to GM3 |
|
|
Term
|
Definition
| the result of GM2's hydrolysis via alpha-N-acetyle-hexosaminidase A |
|
|
Term
|
Definition
| only happens in a particular situtation or environment |
|
|
Term
| Temperature sensitive mutation |
|
Definition
| shows up in Siamese cats and is a subgroup of conditional mutation |
|
|
Term
|
Definition
| base modificaitons that can cause spontaneous mutations |
|
|
Term
|
Definition
| put the wrong nucelotide during replication therefore causing a mutation |
|
|
Term
|
Definition
| when when the dna polymerase replicates in the 3'-->5' (opposite) |
|
|
Term
|
Definition
| isoforms of the heterocyclic bases |
|
|
Term
|
Definition
| the cause of different functional groups attaching to the base |
|
|
Term
|
Definition
| the base is a correct pyrimidine |
|
|
Term
|
Definition
| if the base is an isoform pyrimidine |
|
|
Term
|
Definition
| if the base is a correct purine |
|
|
Term
|
Definition
| if the base is an isoform purine |
|
|
Term
|
Definition
| dna replication leads to the introduction of small insertions or deletions |
|
|
Term
|
Definition
| the bond in deoxyribose and purine is broken it causes the loss of the heterocyclic base G or A in an intact DNA molecule |
|
|
Term
|
Definition
| The area where purine is not there |
|
|
Term
|
Definition
| heterocyclic bases are damaged by the amino group and the cytosine or adenine is taken off |
|
|
Term
|
Definition
| What uracil and adenine is changed to as a result of deamination's conversion |
|
|
Term
|
Definition
| Free radical that can be generated from radiation and are highly reactive with proteins |
|
|
Term
|
Definition
| free radical that can be generated from radiation and are highly reactive with proteins |
|
|
Term
| Hydrogen peroxides (H2O2) |
|
Definition
| free radical that can be generated from readiation and are highly reactive with proteins |
|
|
Term
|
Definition
| resulting in free radicals that can be generated from radiation and are highly reactive with proteins |
|
|
Term
|
Definition
| Free radicals that can move between genomes and insert their genes |
|
|
Term
| Transposable genetic elements (jumping genes) |
|
Definition
| like transposons, free radicals that can move between genomes and insert their genes |
|
|
Term
|
Definition
| agents that can cause mutation |
|
|
Term
|
Definition
| a category of mutagenic chemicals that can substitute for a purine or pyrimidine, a nucleic acid-like compound |
|
|
Term
|
Definition
| an example of base analogues where methyl group is substituted by Br |
|
|
Term
|
Definition
| the element that replaces methyl group as a reult of 5-bromouracil (5-BU) |
|
|
Term
|
Definition
| when heterocylic bases are damaged by the amino group in the C or A is taken off |
|
|
Term
|
Definition
| base analogue that substituted for adenine and can form hydrogen bonds with either T or C |
|
|
Term
|
Definition
| chemical mutagens that donate alkyl groups such as CH3CH2, methyl, keto, or amino groups |
|
|
Term
Mustard gas
(1,5-dichloro-3-thiapentane) |
|
Definition
| an example of a chemical mutagen that smells like mustard and promotes blisters |
|
|
Term
|
Definition
| causes frame shif tmutations because they are the same shape, size and strucutres of heterocylcic bases, replacesing them and wedging themselves in DNA |
|
|
Term
|
Definition
|
|
Term
|
Definition
| Acridine dye, anti-bacterial agent used in WWI/II to disinfect wounds |
|
|
Term
|
Definition
| nucleic acid dye that fluorites green when it binds with DNA |
|
|
Term
|
Definition
long wavelength=weak energy
short wavelength=strong energy=more mutation causing |
|
|
Term
|
Definition
| approximately 260nm and absorbed by purines and pyrimidines |
|
|
Term
|
Definition
| when two thymines from crosslink with each other |
|
|
Term
|
Definition
| the mutagen rays that excite electrons from different molecules and causes them to escape and forms free radicals |
|
|
Term
|
Definition
| highly reactive and alters purines or pyrimidines |
|
|
Term
|
Definition
ionizing radiation
.01-10nm |
|
|
Term
|
Definition
ionizing radiation
10^-3nm |
|
|
Term
|
Definition
ionizing radiation
10^-5nm |
|
|
Term
|
Definition
| a free radical formed by x-rays and a mutation of guanine that forms bonds with A instead of C |
|
|
Term
|
Definition
| bonds between phosphate group and sugar |
|
|
Term
|
Definition
| are on the membrane surface of erythrocytes and are limited by sugards added to terminal end |
|
|
Term
|
Definition
| three alleles that encodes for glycosyltransferase |
|
|
Term
|
Definition
I gene encodes
incorporates sugars on the terminal end of the H-substance |
|
|
Term
|
Definition
| encodes for I^A glycosyltransferase |
|
|
Term
|
Definition
| encoded by I^A and attaches N-acetylgalactosamine to terminal end of H-substance in type A |
|
|
Term
|
Definition
| is attached to the terminal end of H-substance of type A |
|
|
Term
|
Definition
| encodes for I^B glycosyltransferase |
|
|
Term
|
Definition
| encoded by I^B and attaches galactose to terminal end of H-substance in type B |
|
|
Term
|
Definition
| is attached to the terminal end of H-substance of type B |
|
|
Term
|
Definition
Null allele and does not code for anything
has deletion of 231 bases into the exon that codes for enzyme
one nucleotide dif from I^A |
|
|
Term
| Duchenne Muscular Dystrophy (DMD) |
|
Definition
| childhood form, caused by missing genes for dystrophin |
|
|
Term
|
Definition
| DMD; which is a cytoplasmic protein responsible for connecting cytoskeleton structure in the muscle cells |
|
|
Term
|
Definition
| The gene that codes for dystrophin |
|
|
Term
| Becker Muscular Dystrophy (BMD) |
|
Definition
| a mild form of MD, the dystrophin protein is partially working |
|
|
Term
|
Definition
| a mutation that occurred during the replication or repairs of DNA, everyone has this |
|
|
Term
|
Definition
| case of repeats, oer 231 repeats in the FMR-1 gene and consists of CGG trinucleotide repeats |
|
|
Term
|
Definition
| the location of repeats in the Fragile X Syndrome |
|
|
Term
|
Definition
| causes atrophy in the face, arms, and legs, cataracts, caused by MDPK gene |
|
|
Term
| Myotonic dystrophy protein kinase (MDPK)gene |
|
Definition
| causes Myotonic Dystrophy or the MDPK |
|
|
Term
| Myotonic dystrophy protein kinase |
|
Definition
| large enzyme coded by MDPK that causes Myotonic dystrophy |
|
|
Term
|
Definition
| Causes lethal mutation on chromosome 4 and codes for Huntingtin protein |
|
|
Term
|
Definition
| a protein that results in Huntingtin's disease |
|
|
Term
|
Definition
Autosomal Dominant disease where there is a degenerative neurological function
lack of coordination, jerking dementia and eventually death |
|
|
Term
|
Definition
|
|
Term
| Polyglutamine tract (Poly Q tract) |
|
Definition
| known as CAG because it codes for glutamine-glutamine-glutamine, and have 35 or more repeats of this |
|
|
Term
| Juvenile Huntingtin disease |
|
Definition
| has close to 120 glutamine-glutamine-glutamine repeats, subgroup of huntingtins |
|
|
Term
| Akinetic-rifid Huntingtin Disease |
|
Definition
| has close to 120 glutamine-glutamine-glutamine repeats, subgroup of huntingtins |
|
|
Term
| Westphal Huntingtin disease |
|
Definition
| has close to 120 glutamine-glutamine-glutamine repeats, subgroup of huntingtins |
|
|
Term
| Proof reading-replication repair |
|
Definition
| Monitering of DNA by checking backwards along the base pairs |
|
|
Term
|
Definition
| it monitors the mistakes along the dna strand |
|
|
Term
|
Definition
| an exonuclease will make a cut around a region that doesn't match, unwound, removed, and degraded |
|
|
Term
|
Definition
| enzyme involved in mismatch repair that adds a methyl group to every adenine on the template and tells exonuclease this part is correct |
|
|
Term
|
Definition
| if mistakes remain and deals with pyrimidine dimmers |
|
|
Term
|
Definition
process where gap is repaired by the Rec A protein
transfer from other parent strand and gap is filled by DNA ligase |
|
|
Term
|
Definition
| last resort for error correction and DNA polymerase III begins to insert bases at random |
|
|
Term
|
Definition
| repairs damage from UV radiation and occurs in blue light |
|
|
Term
| Photoreactivation enzyme (PRE) |
|
Definition
| Photon activates and this enzyme cleaves the T-dimers and DNA ligase to fill in gap |
|
|
Term
|
Definition
|
|
Term
|
Definition
| which correct damage to bases created by free radicals |
|
|
Term
| Nucleotide excision repair (NER) |
|
Definition
| corrects large problems caused by UV radiation |
|
|
Term
|
Definition
| a base pair recognition enzyme that recognizes many different types of mistaks and marks it for AP endonuclease |
|
|
Term
|
Definition
| comes in clips out errors by cleaving the phosphodiester bonds |
|
|
Term
| Ultraviolet repair (VUR) gene |
|
Definition
| in NER this makes the UVR enzyme that reconizes and clips out the dimers fromed by UV radiation |
|
|
Term
|
Definition
second leading cause of death behind heart disease
500,000 die a day |
|
|
Term
|
Definition
| when the cancer begins to move towards other areas of the body |
|
|
Term
|
Definition
| a multicellular mass that does not metastasize |
|
|
Term
|
Definition
| a multicellular mass that does metatasize |
|
|
Term
| Reciprocal chromosomal translocation |
|
Definition
| genetic information exchanged between on chromosome and another |
|
|
Term
|
Definition
| group of diseases that cause leukemia and lymphoma cancers |
|
|
Term
|
Definition
| a known translocation between chromosome 8 and 2, 14, or 22 |
|
|
Term
|
Definition
| The translocated site in Brurkitt's Lymphoma |
|
|
Term
|
Definition
| these encode transcription factors that stimulate the expression of other genes and formulate ligands that stimulate cell division and reforms cell cycle regulators |
|
|
Term
|
Definition
| when a mutation causes the proto-oncogenes to lose control of its functions |
|
|
Term
|
Definition
| cancer of the blood or bone marrow; dramatic increase of leukocytes |
|
|
Term
|
Definition
| cancer with rapid increase of immature blood cells such as lymphoblasts, monoblasts and myeloblasts in children |
|
|
Term
|
Definition
| cancer with excessive build up of semi-mature WBC occurs in older people |
|
|
Term
|
Definition
| this cancer occurs in lyphoid stem cells that form lymphoblast an occurs between 9p21 and 14q32-t(9;14) |
|
|
Term
|
Definition
| lymphoblastic leukemia is found here and its translocation occurs 9p21 and 14q32-t(9;14) |
|
|
Term
|
Definition
| translocation for lymphoblastic leukemia and their lymphoid stem cells occurs here |
|
|
Term
|
Definition
| cancer occurs in myeloid stem cells and translocation between chromosomes 9 and 22-t(9;22)forms myeloblasts, RBCs and platelets |
|
|
Term
|
Definition
| myeloid leukemia is found here and translocation occurs between chromosomes 9 and 22-t(9;22) |
|
|
Term
| Chromsome 9 and 22-t(9;22) |
|
Definition
| translocation for myeloid leukemia and their myeloid stem cells |
|
|
Term
| Acute lymphoblastic leukemia (ALL) |
|
Definition
| cancer occurs in the lymphoid stem cells, in chidren or older than 65 and occurs between chromosome 5 and 14q arms-t(12;14) |
|
|
Term
| Chromosome 5 and 14 q arms-t(5q-14q) |
|
Definition
|
|
Term
| Chronic lymphocytic leukemia (CLL) |
|
Definition
| adults over 55 in lymphoid stem cells that will become B cells, translocation between chromosome 12 and 14-t(12;14) |
|
|
Term
| Chromosome 12 and 14-t(12;14) |
|
Definition
|
|
Term
| Acute myelogenous leukemia (AML) |
|
Definition
| found in adult males where myeloid stem cell will become granulocytes and megakareyoctyes; translocation chromosome 8 and 21-t(8;21) |
|
|
Term
| Chromosome 8 and 21-t(8;21) |
|
Definition
|
|
Term
| Chronic myelogenous leukemia (CML) |
|
Definition
| cancer found in adults and affects they myeloid stem cells that will become granulocytes; translocation chromosome 4, 9, and 22-t(4;9;22) |
|
|
Term
| Chromosome 4, 9 and 22-t(4;9;22) |
|
Definition
|
|
Term
| T-cell polymorphocytic leukemia (T-PLL) |
|
Definition
| cancer caused by the accuulation of abnormal T lymphocytes; translocation between x chromosome and 14-t(X;14) |
|
|
Term
| X chromosome and 14-t(X;14) |
|
Definition
|
|
Term
| Large granular lymphocytic leukemia |
|
Definition
| rare cancer targets lymphoid stem cells involving all t cells nad natural killer cells; translocation chromosome 14 and 18-t(11;14) |
|
|
Term
| Chromosome 14 and 18-t(14;18) |
|
Definition
| translocation of large granular lymphocytic leukemia |
|
|
Term
| Hairy cell leukemia (HCL) |
|
Definition
| cancer where b cells look hairy under microscope and mutates lymphoid stem cells; translocation between chromosome 11 and 14-t(11;14) |
|
|
Term
| Chromosome 11 and 14-t(11;14) |
|
Definition
|
|
Term
|
Definition
| cancer caused by a virus similar to HIV and t cells are infected and produce more viruses |
|
|
Term
| Human T-lymphotropic virus (HTLV) |
|
Definition
| the virus that causes adult t cell leukemia |
|
|
Term
|
Definition
| cancer caused by malignant tumors of lymphatic system |
|
|
Term
|
Definition
| one of the groups of lymphoma-5 subtypes |
|
|
Term
| Non-Hodgkin's lymphoma (NHL) |
|
Definition
| one of the groups of lymphoma-30 subtypes |
|
|
Term
|
Definition
| in this group one subtype of NHL's is caused by mutated B cells: centrocytes and centroblasts; translocation between chromosome 11(q13) and 14(q32) |
|
|
Term
| Chromosome 11(q13) and 14(q32)-t(11;14)(q13;32) |
|
Definition
| translocation of follicular lymphoma |
|
|
Term
|
Definition
| the virus that causes mononucleosis; known as the kissing disease; translocation chromosome 11(q21) and 18(q21) |
|
|
Term
| Chromosome 11(q21) and 18(q21)-t(11;18)(q21;q21) |
|
Definition
|
|
Term
| Precursor T-cell lymphoma |
|
Definition
| cancer associatedc with lymphoid stem cells, children, large tumors; translocation chromosome 8(q24) and 14(q32) |
|
|
Term
| Chromosome 8(q24) and 14(q32)-t(8;14)(q24;32) |
|
Definition
| translocaiton of precursor t-cell lymphoma |
|
|
Term
|
Definition
|
|
Term
|
Definition
| the growth of a malignant cell |
|
|
Term
| hereditary nonpolyposis colorectal cancer |
|
Definition
| an example of genomic instability caused by mutations of genes that control DNA repairs and is autosomal dominant |
|
|
Term
|
Definition
| enzyme involved in mismatch repairs |
|
|
Term
|
Definition
| enzyme involved in mismatch repairs |
|
|
Term
|
Definition
| enzyme involved in mismatch repairs |
|
|
Term
|
Definition
| enzyme involved in mismatch repairs |
|
|
Term
|
Definition
| a study of factors that effect gene expressions in a heritable manner but do not always alterthe nucleotide sequence of DNA |
|
|
Term
|
Definition
| enzyme involved in dna repairs |
|
|
Term
|
Definition
| the result of stem cell specialization |
|
|
Term
|
Definition
| first checkpoint for cells undergoing mitosis which monitors cell size and checks for replication |
|
|
Term
|
Definition
| second checkpoint where mistakes in dna are checked for and then m cyclin binds with m kinase and activates to push cell into mitosis |
|
|
Term
|
Definition
| third checkpoint checks spindle and kinetochore microtubules to see if formed correctly |
|
|
Term
|
Definition
| when cell stops dividing or when does not pass checkpoints |
|
|
Term
|
Definition
|
|
Term
|
Definition
| found in breasts, esophagus and lungs, can cause cancer if g protein is broken and always in "on" mode |
|
|
Term
|
Definition
| found in breasts, blood cells, digestive tract; if produced uncontrollably it will promote cancer here |
|
|
Term
| Caspases (cystein-aspartic proteases) |
|
Definition
| enzymes that trigger apoptosis |
|
|
Term
|
Definition
|
|
Term
|
Definition
| enzymes used to activate the pro-caspases to turn on process of apoptosis |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| activated by the intiator caspases and are directly involved in pushing the cell into apoptosis |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| enzyme that stops apoptosis |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| G protein complexes that trigger a cascade reaction that ends in apoptosis |
|
|
Term
| tumor necrosis factor receptor (TNFR) |
|
Definition
| an example of a death receptor |
|
|
Term
|
Definition
| a death receptor found in every tissue in the body |
|
|
Term
|
Definition
| a death receptor found only in immunological cells |
|
|
Term
|
Definition
| ligand that attaches to TNFR located on chromosome 8 |
|
|
Term
|
Definition
| death receptor located on chromosome 10 |
|
|
Term
|
Definition
| an integral protein activates Fas receptors |
|
|
Term
|
Definition
| a death receptor located on chromosome 3 and consists of TRAIL-RI and TRAIL-II |
|
|
Term
|
Definition
Result in activation of CASP8 or CASP10
breaks down cytoskeleton structures |
|
|
Term
|
Definition
Result in activation of CASP8 or CASP10
breaks down cytoskeleton structures |
|
|
Term
| TRAIL-R (TNF-related apoptosis-inducing ligand) |
|
Definition
| activates TRAIL recpetors |
|
|
Term
|
Definition
| this is what tumor cells become after first chemotherapy treatment, as a result it grows |
|
|
Term
|
Definition
| most common mutated gene found in tumors |
|
|
Term
| platelet derived growth factor or epidermal growth factor |
|
Definition
| growth hormones that are triggered which is a ligand signal molecule that binds to G protein |
|
|
Term
| Nucleotide exchange factors |
|
Definition
| the result of binded G protein complex |
|
|
Term
| Nuclear transcription factors |
|
Definition
| targets the expression of genes whose products push cells into cell cycle |
|
|
Term
|
Definition
| defective tumor suppressor that creates p53 protein |
|
|
Term
|
Definition
| a transcription factor that stimulates the production of 50 different products |
|
|
Term
|
Definition
| blocks the activity of S kinase and allows cell to do DNA repairs |
|
|
Term
|
Definition
| when bound to p53 protein it tags p53 for degradation |
|
|
Term
|
Definition
| causes cell to go into apoptosis via p53 activation |
|
|
Term
|
Definition
| causes cell to go into apoptosis via p53 activation |
|
|
Term
|
Definition
| are formed by p53 and Bax gene |
|
|
Term
|
Definition
| are formed by p53 and Bc12 gene |
|
|
Term
|
Definition
| cancer causing agent commonly found in man-made products |
|
|
Term
|
Definition
| cancer causing agent produced by mold |
|
|
Term
|
Definition
| radioactive substance, a noble gas that is a product from decayed uraniu, that floats up and gets trapped inside home |
|
|
