Term
| describe the numbers of the human genome sequence |
|
Definition
| 3 billion base pairs, 20000-25000 genes due to alternative splicing |
|
|
Term
| currently, what is the human genome sequence used for |
|
Definition
|
|
Term
| what are the main achievements currently in bio technology |
|
Definition
| restriction endonucleases, DNA sequence, cloning DNA, creation of synthetic probes, PCR |
|
|
Term
| what is another name for a restriction enzyme |
|
Definition
|
|
Term
| what does a restriction enzyme do |
|
Definition
| cleave specific DNA sequences |
|
|
Term
|
Definition
| a 4-8 base pair sequence that reads the same 5'-3' on both strands and is cleaved by an endonuclease |
|
|
Term
| what is the result after a restriction enzyme does his job |
|
Definition
|
|
Term
|
Definition
| overlaping sequence made by a restriction enzyme (zipper like) |
|
|
Term
|
Definition
| direct cut of a DNA sequence by a restriction enzyme (not zipper like) |
|
|
Term
| after a restriction enzyme cleaves, how is it possible that the area can be ligased if it was ruiened |
|
Definition
| 3' OH and 5' phosphate are attached after clevage |
|
|
Term
| what is a restriction site |
|
Definition
| the sequence a restriction enzyme is cleaved, the palendrome |
|
|
Term
| describe the relationship between the recognition sequence length and the frequency of DNA cuts |
|
Definition
| the shorted the restriction site the more frequent it will be |
|
|
Term
|
Definition
| a compliation of cleaved restriction sites that have been ligated |
|
|
Term
| what type of restriction site cleavage is easier to work with |
|
Definition
|
|
Term
| describe the basic concept of DNA cloning |
|
Definition
| a restriction sequence is inserted into a cloning vector in host cells, DNA is cloned by the cell and amplified making recombinent DNA |
|
|
Term
|
Definition
| a DNA molecile that accepts foriegn DNA fragments |
|
|
Term
|
Definition
|
|
Term
| what are the requirements of a vector for it to work with DNA cloning |
|
Definition
| autonomous replicationin the cell (so it needs an replication origin sequence), at least one restriction site, at least 1 gene for selection |
|
|
Term
| describe what a selection gene is and why it is needed |
|
Definition
| it ia gene within a vector that codes for some sort of selection, like an antibiotic resistance, because not all cells will have a vector with the restriction sequence in it and you need to weed out the ones that dont |
|
|
Term
| what are the common host cells for vectors |
|
Definition
| bacteria, yeast artificial chromosomes, retroviruses, yeast, phages |
|
|
Term
|
Definition
| a virus that infects bacteria |
|
|
Term
| what is a mammalian virus |
|
Definition
|
|
Term
| what are the types of DNA libraries |
|
Definition
|
|
Term
| what is the process of creating a genomic DNA library |
|
Definition
| take DNA from an organism, chop it up with restriction enzymes, ligate to a vector, let the host make many copies of each gene piece |
|
|
Term
| what does a genomic DNA library contain in the end |
|
Definition
| all sequences in the genome: introns, exons, promoters, etc |
|
|
Term
| what is the basic definition of a cDNA library |
|
Definition
| DNA compliment of mRNA that gives a snap shot of what was going on in that cell at that time |
|
|
Term
| describe the process of making a cDNA library |
|
Definition
| get a particular mRNA sequence from a cell, use reverse transcriptase to get a single DNA strand, use DNA polymerase to make it a double strand, put DNA into a vector and allow it to replicate |
|
|
Term
| in the end what does a cDNA library contain |
|
Definition
| no promoters, no introns, only mRNA |
|
|
Term
| how can a cDNA library be used after it has been made |
|
Definition
| put DNA clones into an expression vector to make mRNA then make protein |
|
|
Term
| describe the process of DNA sequencing |
|
Definition
| divide ssDNA, dNTPs, primers, and polymerases into 4 tubes into 4 tubes, add a specific dideoxyribonucleotide to each tube, synthesis proceedes until a dNTP is added in each strand, gel elecrtophoresis divides by length of products |
|
|
Term
| what do you need to do DNA sequencing |
|
Definition
| ssDNA, dNTPs, primer, polymerase |
|
|
Term
| what does DNA sequencing accomplish |
|
Definition
| determines the exact sequence of cloned DNA |
|
|
Term
|
Definition
| to identify DNA fragments |
|
|
Term
|
Definition
| ssDNA labeled (radioactivly usually) that can be hybrixised to ssDNA that is complimentary |
|
|
Term
|
Definition
| when target DNA is made single stranded by a method like heat or chemicals |
|
|
Term
| if probes use ssDNA how do they not reanneal |
|
Definition
| nitrocellulose membrane solid supports |
|
|
Term
| what happens when a nitrocellulose membrane is exposed to a probe |
|
Definition
| if complimentary, probe will bind and can be identified by autotraiography |
|
|
Term
| how long is a small probes |
|
Definition
|
|
Term
| how are small probes made |
|
Definition
| chemically synthesized oligonucleotides the same way synthetic primers are made |
|
|
Term
| what is the purpose of small probes |
|
Definition
| very specific, can identify a single base pair mutation |
|
|
Term
| how are large probes made |
|
Definition
| reverse transcription, PCR, etc. |
|
|
Term
| what is the function of large probes |
|
Definition
| can identify similar genes in different organisms or the same gene in different indiviguals that may not be exactly the same sequence |
|
|
Term
| what does southern blotting analize |
|
Definition
|
|
Term
| describe the process of southern blotting |
|
Definition
| isolate DNA, chop it with restriction enzymes, gel electrophotesis, denature DNA, blott it to immobilize it on the membrane, probe the blot |
|
|
Term
| what does southern blotting focus on |
|
Definition
|
|
Term
| what does northern blotting target |
|
Definition
|
|
Term
| describe the requirements for northern blotting |
|
Definition
| do not need to make a single stranded, probe must be complimentary to the mRNA |
|
|
Term
| what does northern blotting specifically detect |
|
Definition
|
|
Term
|
Definition
| tissue or cell specific studies, measure gene expression |
|
|
Term
| what does a western blot target |
|
Definition
|
|
Term
| what is the probe in a western blot |
|
Definition
| antibody specific to the protein of interest attached to an enzyme |
|
|
Term
| what is the function of a western blot |
|
Definition
| quantative, tells how much protein you have |
|
|
Term
| what is a restriction fragment length polymorphism (RFLP) |
|
Definition
| genetic differences due to polymorphisms in one of the 99.9% noncding regions that are inheriently not harmful or do not containa phenotype |
|
|
Term
| what are the requirements to be considered a RFLP |
|
Definition
| create or deletes a restriction site, has more or less of a type of repeated sequence |
|
|
Term
| what are the causes of RFLP |
|
Definition
| single nucleotide polymorphisms, disease causing mutation, harmless changes, tandem repeats |
|
|
Term
| what can single nucleotide polymorphisms (SNPs) cause |
|
Definition
| create of abolish a restriction site, 90% of the genetic variation in humans |
|
|
Term
| what does a variable number of tandem repeats (VNTR) refer to? |
|
Definition
| human genome contains many regions where a sequence is repeated intandem many times that varies greatly from person to person that are not related and some between people related |
|
|
Term
| physycally, how is a RFLP produced |
|
Definition
| DNA is cleaved on either side of a VNTR |
|
|
Term
|
Definition
| single nucleotide change that makes or abolishes a restriction site messing p the action of the restriction enzyme giving different sized fragments when run on a gel |
|
|
Term
| compared to VNTR describe the prevlience of SNP in the genome |
|
Definition
| SNPs are distributed through out |
|
|
Term
|
Definition
| to locate a diseased gene (not that it is the disease causing mutation but they tend to be near them), to mark allales (disease markers) |
|
|
Term
| what does it mean that a tandem repeat is hypervariable |
|
Definition
| different in all people especially in those not related |
|
|
Term
|
Definition
| not associated with disease, for paternity testing, forensics, molecular finger print |
|
|
Term
| what do you need to know to do a PCR |
|
Definition
| the flanking sequence around the sequence you want to amplify |
|
|
Term
| what are the advantages of PCR |
|
Definition
| amplify small amounts of DNA many times in a few hours, all in one test tube, DNA can be used for many reasons, amplify mutations to learn sequence, detect latent viruses, forensics, safer amniocentesis |
|
|
Term
| describe the process of PCR |
|
Definition
1. design primer to find flanking sequences,
2. denature DNA to make ssDNA using heat close to water boiling point
3. add primer to get DNA polymerase started, cool a bit so primer can anneal
4. chain extension using dNTPs and DNA polymerase
5. repeat steps 2-4 20-30 times |
|
|
Term
| what is a flanking sequence |
|
Definition
| approx 20 base pairs on each DNA strand before the DNA sequence you want to do PCR on so a primer can identify it |
|
|
Term
| in PCR, when you cool after denaturing so the primer can bind, does the DNA strand not just re-anneal |
|
Definition
| because we add lots of primer to make that unlikley and the cooling is very fast |
|
|
Term
| what happens if in PCR the middle part of the DNA strand (between the primers) reanneals during cooling |
|
Definition
| DNA polymerase will push it back open when it comes by |
|
|
Term
|
Definition
| part of its life it is hidden in the genome at low levels, can be found with PCR |
|
|
Term
| how does PCR help forensics |
|
Definition
| small sample size is ok now, just amplify |
|
|
Term
| how did PCR make prenatal genetic testing safer |
|
Definition
| during amniocentesis, smaller sample size is used because we can just amplify, less invasive |
|
|
Term
| how can we assess mRNA levels |
|
Definition
| northern blot, microarray |
|
|
Term
| how are the results of a northern blot interperted |
|
Definition
| band = yes the mRNA was expressed, band width tells quantity |
|
|
Term
| what does a microarray show |
|
Definition
| mRNA expression for 1000s of genes at a time |
|
|
Term
| how does a microarray work |
|
Definition
| glass slide with 1000s of divits, each divit has ssDNA with a compliment to gene with bases pointed outwards, isolate the mRNA sample and make cDNA copy, if compliment is on slide it will bind to it. always comparing 2 samples |
|
|
Term
| how do you read microarray results |
|
Definition
yellow: samples are equal in expression
black: only one sample had expression
red: one sample expressed more
green: the other sample expressed more |
|
|
Term
| what reads the results of a microarray |
|
Definition
| a machine that can analize the exact shades and determine conecntrations |
|
|
Term
| what does proteomics evaluate |
|
Definition
| proteins made in a cell, post translational modifications, turn over of proteins, tissue comparison, enzyeme modulations |
|
|
Term
| what does ELIZA stand for |
|
Definition
| enzyme linked ammunosorbent assay |
|
|
Term
|
Definition
| protein is linked to an enzume and put in a 96 microwell plate, antigen is bound to plate well, probe with antibody is linked to the enzyme, add colored substrate to see how much protein bound, bound protein = protein made in cell |
|
|
Term
| how do you read the results of a western blot |
|
Definition
| gives color reaction and exact band size |
|
|
Term
| what protein / DNA expression techniques use a gel |
|
Definition
| southern, northern, and western blot, proteomics, PCR (maybe) |
|
|
Term
| what protein / DNA expression techniques are quantative |
|
Definition
| norther and western blots, microarray, elisa, proteomics, PCR sometimes |
|
|
Term
| what protein is affected by a sickle cell anemia mutation and how |
|
Definition
| b-globin by eliminating a restriction site |
|
|
Term
| what type of mutation is involved in sickle cell anemia |
|
Definition
| a point mutation creating a RFLP |
|
|
Term
| why is sickle cell anemia a special type of RFLP |
|
Definition
| because it is one of the few times where the RFLP mutation is disease causing |
|
|
Term
| what are the ways you can test for sickle cell anemia |
|
Definition
| PCR, southern blot, allele specific olegonucleotide probes |
|
|
Term
| explain how to interpert the results of a southern blot for sickle cell anemia |
|
Definition
| sickle cell has one larger (higher on gel) band, a carrier has two bands, a normal allele will have one smaller band |
|
|
Term
| what type of inheritence does sickle cell have |
|
Definition
| recessive, a heretozygote will have no symptoms |
|
|
Term
| explain the process of doing a PCR to detect sickle cell anemia |
|
Definition
| design a primer to flank the B-globin gene, amplify the mutation region, digest the fragment with a restriction enzyme and run a gel |
|
|
Term
| where does the specificity come from when running a PCR to determine sickle cell anemia |
|
Definition
| designing a primer for the mutation region |
|
|
Term
| describe how to read the results for a PCR on sicle cell anemia |
|
Definition
| there will be one larger (higher on gel) band for sickle cell and two smaller bands for a normal patient |
|
|
Term
| describe the process of allele specific olegonucleotide probing |
|
Definition
| get samples from people, make two wells per person, probe one well with the normal gene and one with the mutated gene, add in the samples, see which well has the reaction |
|
|
Term
| what types of mutations can allele specific olegonucleotide probing find |
|
Definition
|
|
Term
| what gene is mutated in cystic fibrosis, what does this gene have a role in |
|
Definition
|
|
Term
| what is the most common lethal genetic mutation in caucasions |
|
Definition
|
|
Term
| what are some of the symptoms of cystic fibrosis |
|
Definition
| chloride in sweat, lack of chloride secretion in the lungs leading to infection and mucus build up, build up of mucus in the pancreas, death around age 30 |
|
|
Term
| what type of mutation affects most people with cystic fibrosis, what amino acid is missing due to it |
|
Definition
|
|
Term
| what test do we use to determine cystic fibrosis |
|
Definition
|
|
Term
| what type of inheritence is cystic fibrosis |
|
Definition
| recessive, need two mutant genes to get the symptoms |
|
|
Term
| describe how to do a PCR to test for cystic fibrosis |
|
Definition
| possible deletion area is flanked making different size products depending on if the deletion area is there or not |
|
|
Term
| describe how to interpert the results of a PCR for cystic fibrosis |
|
Definition
| the mutant will have one smaller band (it weights less because of the cut due to the mutation), the normal will have one larger band, a carrier will have both bands |
|
|
Term
| describe the process of allele specific olegonucleotide probing |
|
Definition
| get samples from people, make two wells per person, probe one well with the normal gene and one with the mutated gene, add in the samples, see which well has the reaction |
|
|
Term
| what types of mutations can allele specific olegonucleotide probing find |
|
Definition
|
|
Term
| what gene is mutated in cystic fibrosis, what does this gene have a role in |
|
Definition
|
|
Term
| what is the most common lethal genetic mutation in caucasions |
|
Definition
|
|
Term
| what are some of the symptoms of cystic fibrosis |
|
Definition
| chloride in sweat, lack of chloride secretion in the lungs leading to infection and mucus build up, build up of mucus in the pancreas, death around age 30 |
|
|
Term
| what type of mutation affects most people with cystic fibrosis, what amino acid is missing due to it |
|
Definition
|
|
Term
| what test do we use to determine cystic fibrosis |
|
Definition
|
|
Term
| what type of inheritence is cystic fibrosis |
|
Definition
| recessive, need two mutant genes to get the symptoms |
|
|
Term
| describe how to do a PCR to test for cystic fibrosis |
|
Definition
| possible deletion area is flanked making different size products depending on if the deletion area is there or not |
|
|
Term
| describe how to interpert the results of a PCR for cystic fibrosis |
|
Definition
| the mutant will have one smaller band (it weights less because of the cut due to the mutation), the normal will have one larger band, a carrier will have both bands |
|
|
Term
| what type of inheritence is PKU |
|
Definition
|
|
Term
| why are all newborns screened for PKU |
|
Definition
| because the symptoms can be avoided with a special diet |
|
|
Term
| what process is inhibited during PKU |
|
Definition
| phenylalanine turning into tyrosine |
|
|
Term
| why can we use ASO probing or PCR to find PKU |
|
Definition
| because there are over 400 mutation site possibilities and you would have to make over 400 primers with special flanking regions or have over 400 wells for ASO |
|
|
Term
| what are the symptoms of PKU |
|
Definition
|
|
Term
| how many exons could have a PKU causing mutation |
|
Definition
|
|
Term
| what types of mutations could cause PKU |
|
Definition
| mostly missense and some splice, nonsense, insertions, deletions |
|
|
Term
| describe how to do RFLP analysis to determine PKU |
|
Definition
| collect DNA from many family members including 1 person with the disease and the patient, find a RFLP marker that is near the disease site, do a southern blot on the RFLP marker and compare the patient with the normal, carriers, and affected family members to find the patient's result |
|
|
Term
| what kind of mutation cause myotonic dystrophy and of what gene |
|
Definition
| 3' non-coding trinucleotide repeat of a protein kinase gene |
|
|
Term
| what is the most common adult muscular dystrophy |
|
Definition
|
|
Term
| describe how to do RFLP comparison to determine muscular dystrophy |
|
Definition
| digest part of the RFLP and get an identifiable sequence, compare to family members who are affected or not, the mutant allele may be different in each person but you compare to the family members so you can see what normal looks like in that family |
|
|
Term
| what happens to trinucleotide repeats over time |
|
Definition
| they get bigger with each generation |
|
|
Term
| why can we do PCR on a trinucleotide repeat |
|
Definition
| PCR can flank the expansion region but when it gets too big it becomes difficult for PCR to amplify the region |
|
|
Term
| what techniques do you use to detect HIV |
|
Definition
| immunoassays: ELIZA and western blot |
|
|
Term
| why is it difficult to detect HIV early |
|
Definition
| because it takes years for the symptoms to develop because it takes a long time for antibodies to form |
|
|
Term
| at what point can you test for HIV |
|
Definition
| around 6 months after infection there should be enough antibodies, but you can do it earlier but retest after 6 months |
|
|
Term
| how to use ELIZA to test HIV |
|
Definition
| bind proteins to the wells and add the HIV antibody, add the sample to the wells, if there is an HIV antibody there will be a reaction causing color change |
|
|
Term
| why do we also do a western blot to test for HIV |
|
Definition
| ELIZA is super sensitive and could give a flase positive so you want to test the protein to make sure it is the right size and is HIV |
|
|
Term
| how do you do a western blot to test for HIV |
|
Definition
| do electrophorsis to seperate sample, probe for a protein reaction and verify the protein by size |
|
|
Term
| how has PCR revolutionized HIV testing |
|
Definition
| test can be done immediatly because you need less sample, you can PCR for the provisus to test time now, you can do reverse transcription PCR for HIV itself, you can monitor HIV over time (quantative) |
|
|
Term
| how is paternity testing done |
|
Definition
| design a primer to flank VnTR molecular fingerprint and amplify, stain for any DNA present (no probe) and compare to family |
|
|
Term
| what is the paternity index |
|
Definition
| because VNTRs are not perfect between family members different states require you to test a different amount of VNTRs before making a decision on paternity |
|
|
Term
|
Definition
| basic unit of inheritence |
|
|
Term
|
Definition
| location of a gene on a chromosome |
|
|
Term
|
Definition
| alternative form of a gene at a locus |
|
|
Term
|
Definition
| genetic constitution of a person |
|
|
Term
|
Definition
| observed expression of a genotype |
|
|
Term
|
Definition
| identical allels on each locus of a chromosome pair |
|
|
Term
|
Definition
| different allels on each locus of a chromosome pair |
|
|
Term
|
Definition
| condition in homozygotes and heteroxygotes where only one copy of the gene is needed for the phenotype |
|
|
Term
|
Definition
| condition in homozygotes and heteroxygotes where two copies of the gene are needed for the phenotype |
|
|
Term
|
Definition
|
|
Term
| how many autosomes do we have |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| 2 copies of each chromosome |
|
|
Term
|
Definition
| 1 copy of each chromosome |
|
|
Term
|
Definition
|
|
Term
|
Definition
| sex cell, haploid egg or sperm |
|
|
Term
|
Definition
| single gene mutated, transmitted in simple patterns |
|
|
Term
| what are the types of single gene disorders |
|
Definition
| autosomal, recessive, X linked |
|
|
Term
|
Definition
| deviation in number of chromosomes |
|
|
Term
| structural chromosome abnormality |
|
Definition
| more, less, or wrong chromosome info |
|
|
Term
|
Definition
| multiple genes and non-genetic (enivormental) influences |
|
|
Term
| what shape and color is an asympatmatic male |
|
Definition
|
|
Term
| what shape and color is an asymptamatic female |
|
Definition
|
|
Term
| what shape and color is an symptamatic male |
|
Definition
|
|
Term
| what shape and color is an symptamatic female |
|
Definition
|
|
Term
| what shape and color is an dead male |
|
Definition
| square with line through it |
|
|
Term
| what shape and color is an dead female |
|
Definition
| circle with line through it |
|
|
Term
| what shape shows two are mating |
|
Definition
| line between circle and square |
|
|
Term
| what shape shows two related people are mating |
|
Definition
| 2 lines between circle and square |
|
|
Term
| what shape shoes dizygotic twins |
|
Definition
| single line that branches from parents that splits to the two twins |
|
|
Term
| what shape shows monozygotic twins |
|
Definition
| triangle with points being parents and two kids |
|
|
Term
| how can you tell by a pedigree that a disease is autosomal dominent |
|
Definition
| affected person in every generation, always one affected parent, affects either sex, has male to male transmission |
|
|
Term
| what proteins are associated with autosomal dominate disorders |
|
Definition
|
|
Term
| what diseases are autosomal dominate |
|
Definition
| familial hypercholsterlemia, huntingtons, myotonic dystrophy, neurofibromastosis type 1, osteogenesis imperfecta, marfans syndrome |
|
|
Term
| what is the recurrance risk |
|
Definition
| probability of disease being passed to offspring with each reproductive event not affecting the occurance of another in the data |
|
|
Term
| when determining recurrance risk in autosomal dominent disorders what does an upper case letter mean |
|
Definition
| dominent allele (nothing to do with mutant or not) |
|
|
Term
| when determining recurrance risk in autosomal dominent disorders what does an lower case letter mean |
|
Definition
| recessive allele (nothing to do with mutant or not) |
|
|
Term
| what is the most common autosomal dominant cross, what is the percentage of having affected children |
|
Definition
|
|
Term
| in a pedigree, what trends show it is an autosomal recessive disorder |
|
Definition
| affected person normally has unaffected parents, either sex affected, both parents are at least carriers, male to male transmission, skipping of generations |
|
|
Term
| what proteins are involved in autosomal recessive disorders |
|
Definition
|
|
Term
| what are some autosomal recessive disorders |
|
Definition
| sickle cell anemia, cystic fibrosis, pku, tay-sacs |
|
|
Term
| what familial situation usually causes autosomal recessive disorders |
|
Definition
|
|
Term
| what type of genetic cross is commonly involved in autosomal recessive diseaes, what percent of the children are affected |
|
Definition
| Aa x Aa giving a 25% chance of disease |
|
|
Term
| when doing a cross for chance of inheritence with an autosomal recessive disorder, what does a lower case letter signify |
|
Definition
|
|
Term
| what are the two categories of diseases associated with the X gene |
|
Definition
| x-linked dominent and x-linked (recessive) |
|
|
Term
| what type of genetic disease is fragile x |
|
Definition
| it is considered to be x-dominent sometimes and x-linked others |
|
|
Term
| who is affected by x linked disorders |
|
Definition
|
|
Term
| in a pedigree, how can you tell a disorder is x linked |
|
Definition
| usually unaffected parents, male inherits diseased allele from mom, no male to male transmission |
|
|
Term
| what are some x-linked diseases |
|
Definition
| duchene and becker muscular dystrophy, lesh-nyhan syndrome, glucose-6-phosphate dehydrogenase deficiency, hemophilia A and B, menches |
|
|
Term
| what is the most common genetic cross involved in x-linked diseases, what percent of children will be affected |
|
Definition
|
|
Term
| what does mitochondrial DNA encode for |
|
Definition
| 13 proteins, 2 rRNA, 22 tRNA |
|
|
Term
| on a pedigree, how can you tell if a disorder is mitochondrial |
|
Definition
| affected female affects all children, affected male affects none of the children, males and females affected, |
|
|
Term
| what diseases are due to mitochondrial inheritance |
|
Definition
| leber's hereditary optic neuropathy, neuropathys, myopaths, cardiomyopaths |
|
|
Term
| how do you calculate the risk of recurrance in mitochondrial diseases |
|
Definition
| you don't it does not follow mendilian genetics |
|
|
Term
| what are the symptoms of leber's hereditary optic neuropathy |
|
Definition
| blindness, rapid, irreversable, begins in central field, around age 30, optic atrophy |
|
|
Term
| what is wrong with the proteins in osteogenesis imperfecta |
|
Definition
| defect in structural proteins |
|
|
Term
| what diseases have a defecit in regulatory proteins |
|
Definition
| familial hypercholsterloemia, myotonic dystrophy |
|
|
Term
| what is a gain of function disorder |
|
Definition
| normal protein becomes too toxic |
|
|
Term
| what disease causes a gain in protein function, what does it affect |
|
Definition
| huntington disease causes toxic effects to neurons |
|
|
Term
| why type of inheritence is neurofibromatosis type 1 |
|
Definition
|
|
Term
| what is mutated in neurofibromatosis type 1 |
|
Definition
| regulatory protein involved in controlling the cell cycle |
|
|
Term
| what are the symptoms of neurofibromatosis type 1 |
|
Definition
| cafe-au-lair spots, multiple neurofibromas, axillary freckling, lisch nodules in eye, variable expression |
|
|
Term
| what type of inheritance is marfans syndrome |
|
Definition
|
|
Term
| in marfan syndrome what is mutated, in what major areas is it located |
|
Definition
| fibrillin mutation, ECM and connective tissue |
|
|
Term
| what are the symptoms of marfan syndrome |
|
Definition
| thin long limbs, long fingers, hypermobile joints, myopia, detached lens, aortic aneurysm |
|
|
Term
|
Definition
| 1 mutation affects multiple organ systems, common |
|
|
Term
| what disease is an example of pleiotropy |
|
Definition
|
|
Term
| what type of inheritance is thalassemia |
|
Definition
|
|
Term
| what gene is affected in alpha-thalessemia, what is the result |
|
Definition
| insufficient synthesis of alpha chain of hemaglobin, beta globin acclumulates |
|
|
Term
| what gene is affected in beta-thalessemia |
|
Definition
| insufficient synthesis of beta chain of hemaglobin, alpha chain accumulates |
|
|
Term
| where in the world are thalassemia diseases common |
|
Definition
| mediterian sea, africa, southeast asia |
|
|
Term
| describe the globin content in a normal hemaglobin |
|
Definition
| 2 beta globin from 2 normal genes make 2 beta chains, 4 alpha globin from 2 copies of 2 adjacent genes make 2 alpha chains |
|
|
Term
| what chromosome is alpha globin on |
|
Definition
|
|
Term
| what chromosome is beta globin on |
|
Definition
|
|
Term
| so if there are more alpha globin genes and less beta globin why isnt there always more alpha globin |
|
Definition
| the body accounts for this and we still get equal production |
|
|
Term
| describe the globin content of a fetal hemaglobin |
|
Definition
| 2 gamma chains and 2 alpha chains |
|
|
Term
| what makes fetal hemaglobin functionally different from adult |
|
Definition
| it has a higher affinity for oxygen so it can pull oxygen from the mother;s hemaglobin |
|
|
Term
| when does fetal hemaglobin go away, what replaces it |
|
Definition
| from 6 mo - 2 yrs old it decreases and is replaced by beta globin |
|
|
Term
| when someone has beta thalasemia, they have a decrease in beta Hb and increase in alpha Hb, why can't they use use 4 alpha Hb and be fine |
|
Definition
| a Hb with 4 alpha Hb chains is insoluble and percipitates and is removed by the spleen and other blood cleaning organs due to 'damage' |
|
|
Term
|
Definition
|
|
Term
| what does it mean when said that beta-thalasemia has compounded anemia |
|
Definition
| beta globin is decreased giving anemia, and the 4 alpha globin Hb that took its place are removed giving further anermia |
|
|
Term
| describe the genes of a beta thalasemia carrier |
|
Definition
| 1 normal copy and 1 mutated |
|
|
Term
| describe the genes of a person affected with beta thalassemia |
|
Definition
| 2 mutated copies of the gene with various intensities B0 or B+ and combinations of these intensities |
|
|
Term
| what is a B0 (beta o) mutation |
|
Definition
| total absence of the functional B globin in that copy of the gene |
|
|
Term
| what is a B+ (beta +) mutation |
|
Definition
| leads to reduct beta globin but it is still normal |
|
|
Term
| what may be some of the reasons for a beta + mutation |
|
Definition
| may be a problem with the promoter, not getting sufficient promotion of transcriptioon but do get some |
|
|
Term
| what are the symptoms of thalassemia minor |
|
Definition
| usually asymptamatic of have mild anemia which may be mistaken for Fe deficiency anemia. |
|
|
Term
| how do you diagnose thalassemia minor |
|
Definition
| hemaglobin electrophoresis or blood work |
|
|
Term
| describe the genes of someone with beta thalassemia minor |
|
Definition
| carrier, one affected gene |
|
|
Term
| what are the symptoms of beta thalassemia major |
|
Definition
| severly reduced or no Hb production, severe anemia, hepatosplenomegaly, skeletal deformities especially in face and scull, bone marrow expansion, increased systemic Fe accumulates in liver and heart |
|
|
Term
| why is beta thalassemia not seen in babies |
|
Definition
| because they dont use beta globin until 6 mo old, they use gamma |
|
|
Term
| why is there hepatosplenomegaly in b-thalassemia |
|
Definition
| because the liver and spleen are trying to make new RBC and are getting rid of so many that they swell |
|
|
Term
| what does someone with b-thalassemia get skeletal and face deformities |
|
Definition
| because the bone marrow swells due to trying to make so many RBC |
|
|
Term
| how do you treat thalassemia major |
|
Definition
| regulat blood transfusions (every 2-4 weeks) combined with Fe chelation therapy, bone marrow transplants, potential gene therapy |
|
|
Term
| what are the symptoms and treatment of thalassemia intermedia |
|
Definition
| vary a lot, defined on clinical symptoms, treat with occasional blood transfusions |
|
|
Term
| what is gamma-globin synthesis continued into adulthood |
|
Definition
| turning the gene on could kill of b-thalasemia but people could have a hard time releasing O2, so less athletics, or could kill baby if pregant becase mom is stealing all the o2 |
|
|
Term
| in regard to genes, what usually causes alpha-thalassemia |
|
Definition
| usually due to missing genes, classified by how many are missing |
|
|
Term
| in alpha-thalassemia, what is the phenotye of aa/aa, what are the symptoms |
|
Definition
|
|
Term
| in alpha-thalassemia, what is the phenotye of -a/aa, what are the symptoms |
|
Definition
|
|
Term
| in alpha-thalassemia, what is the phenotye of --/aa, what are the symptoms |
|
Definition
| alpha-thalassemia trait, symptoms like thalassemia minor or are asymptmatic |
|
|
Term
| in alpha-thalassemia, what is the phenotye of -a/-a, what are the symptoms |
|
Definition
| alpha-thalassemia trait, symptoms like thalassemia minor or are asymptmatic |
|
|
Term
| in alpha-thalassemia, what is the phenotye of --/-a, what are the symptoms |
|
Definition
| hemaglobin H (HbH) disease, symptoms like thalassemia intermedia |
|
|
Term
| in alpha-thalassemia, what is the phenotye of --/--, what are the symptoms |
|
Definition
| hydrops fetalis, cannot support life because babies need alpha thalasemia unline beta |
|
|
Term
| what does hydrops fetalis mean |
|
Definition
| not specific to alpha-thalassemia, general term for death in utero with adema and swelling |
|
|
Term
| what happens in utero to the globin molecule when someone has alpha-thalassemia |
|
Definition
| gamma-globin forms tertameres (Hb Bart) |
|
|
Term
| what happens in utero when someone has alpha thalassemia with 1 copy of alpha globin |
|
Definition
| evuntally B-globin tetramere HbH forms |
|
|
Term
| what is the difference between HbH / HbBart and the beta-globin tetramere, what differences does this cause in the symptoms |
|
Definition
| they are less toxic which is why someone with any alpha globin at all has less severe symptoms that someone with b-thalassemia |
|
|
Term
| in regards to x-linked genes, what is the word that classifies males, what does this mean |
|
Definition
| hemizygos, they only need one copy of the gene to show symptoms wether it is dominent or recessive |
|
|
Term
| what gene is damaged in hemophellia a |
|
Definition
|
|
Term
| what gene is damaged in hemophelia b |
|
Definition
|
|
Term
| what type of mutations can cause hemophelia |
|
Definition
| deletions, nonsense, DNA inversions |
|
|
Term
| what cellular difference leads to difference severities in the symptoms of hemophelia |
|
Definition
| different mutations leading to different levels of the clotting factors in the body |
|
|
Term
| how can you tell the differences, in regard to symptoms, between hemophelia a and b |
|
Definition
| they have the same symptoms so you need to do a blood test or gene sequencing |
|
|
Term
| is hemophelia common or rare |
|
Definition
|
|
Term
| what type of hemophelia is more common |
|
Definition
|
|
Term
| what are the symptoms of hemophelia |
|
Definition
| prolonged bleeding, intercranial hemorraging, easy bruising, hemarthorsis |
|
|
Term
| what is hemophelia often mistaken for |
|
Definition
|
|
Term
| what signs of hemophelia are often noticed at birth |
|
Definition
| too much bleeding during circmucision or cutting umbilical cord, intercranial hemmorage that can cause death |
|
|
Term
|
Definition
|
|
Term
| what is the most frequent cause of death in people with hemophelia, why |
|
Definition
| AIDs, because treatment is factor replacement therapy and we used to use concentrated human plasma and during purification viruses are not eliminated |
|
|
Term
| why is AIDs less of a problem for hemophelia patients now |
|
Definition
| because we have better screening processes and are moving towards recombinent clotting factors and potential gene therapy |
|
|
Term
| what worries do people with hemophelia still have today when doing factor replacement therapy |
|
Definition
| some viruses not eliminated or tested for still, like hepititis |
|
|
Term
| in duchenne and becker muscular dystrophy what gene is affected |
|
Definition
| dystrophin gene in both diseases |
|
|
Term
| in duchenne and becker muscular dystrophy, they affected gene causes problems in cells of which areas |
|
Definition
| cytoplasm of muscle (all kinds) and some neuro tissue |
|
|
Term
| why does the gene for duchenne and becker muscular dystrophy have a higher mutation rate and get new mutations |
|
Definition
|
|
Term
| why type of mutation causes duchenne muscular dystrophy |
|
Definition
| frameshift insertion/deletion, also leads to a trunkated protein due to the potential of an early stop codon |
|
|
Term
| compare duchenne muscular dystrophy to myotonic muscular dystrophy in severity and frequency |
|
Definition
| duchenne muscular dystrophy is more common overall and more sever, myotonic is only the most common adult muscular dystrophy |
|
|
Term
| what are the symptoms of duchenne muscular dystrophy |
|
Definition
| apparent at 5 yrs, 10-12 years wheelchair, muscle atrophy, progressive, cognative impairment, death due to decreased respiratory function causing infections and decreased cardiac function around 20 yrs |
|
|
Term
| what type of deletion is becker muscular dystrophy |
|
Definition
| non-frameshift insertion/deletion |
|
|
Term
| what is the differences in the gene for becker muscular dystrophy vs duchenne |
|
Definition
| the gene makes a partially functional protein causing more mild symptoms |
|
|
Term
| what are the symptoms of becker muscular dystrophy |
|
Definition
| same general progression as duchenne but takes longer, onset is about 11 yrs and death 42 |
|
|
Term
| what is the treatment for duchanne and becker muscular dystrophy |
|
Definition
| only therapy, gene therapy has show potential in animal models but the large gene makes things difficult |
|
|
Term
| what is another name of x-inactivation |
|
Definition
|
|
Term
| why do we need x-inactivation |
|
Definition
| because gemales have 2 X and males only 1, so in theory, females would make double of all the proteins which they do not need |
|
|
Term
|
Definition
| where one chromosome in females is shut off and not available for transcription |
|
|
Term
| what is the inactivated x chromosome called |
|
Definition
|
|
Term
| how are the genes of a barr body shut off |
|
Definition
|
|
Term
| in what phase are the nuclei of a barr body when they are shut off |
|
Definition
|
|
Term
| at what stage does the cell shut off the barr body duriing the development |
|
Definition
|
|
Term
| how does the cell decide which X chromosome to shut off during x-inactivation |
|
Definition
| it is random but after the 100 cells choose, all of their decendents will have the same one shut off |
|
|
Term
| what is ment when said that x-inactivation is incomplete |
|
Definition
| the entire barr body isn't shut off, about 10% is able to be transcribed |
|
|
Term
| what does incomplete x-inactivation explain |
|
Definition
| why some females show traits of mutant with only one copy mutated and one normal gene and why the symptoms are less severe (because they only have one X it makes it almost like they can get recessive x-linked diseases like males, but because they are females and do have normal genes it is less severe) |
|
|
Term
| why does it matter which x is shut off in each cell during x-inactivation |
|
Definition
| some come from mom and some come from dad and the one left on is randomly chosen, this gives potential for good genes to be deactivated and bad ones to stay active (or vice versa). unlucky choosing can produce more bad genes than good ones even though the female would normally be an asymptamatic carrier and they will then express the disease |
|
|
Term
| how can severe hemophelia occur in females |
|
Definition
| because unlucky shutting off of the barr body can make a carrier express more of the mutant genes, giving them the full symptoms anyways |
|
|
Term
| what type of mutation is fragile x |
|
Definition
| trinucletide repeat expansion in the 5' non coding region |
|
|
Term
| what are the symptoms of fragile x |
|
Definition
| long face, large mandible, large everted ears |
|
|
Term
| what is the most common know cause of autism |
|
Definition
|
|
Term
| what is the most common inherited mental retardation |
|
Definition
|
|
Term
| why can't fragile x be considered x-linked dominent |
|
Definition
| dominent should have 2x as many females as males affected and there are quite of bit of females affected but not more than males |
|
|
Term
| why can't fragile x be considered x-linked recessive |
|
Definition
| because recessive means that almost no females should be affected and quite a few are |
|
|
Term
| when a female gets fragile x, how do her symptoms differ |
|
Definition
| they are more variable and less severe |
|
|
Term
| how many fragile x mutations does a female with fragile x have, explain your answer |
|
Definition
| 1 or 2. they can get symptoms with only one because of the barr body situation where it makes only one x chromosome anyways, or they can have two |
|
|
Term
| what type of x-linked disease is fragile x most likley to be in conclusion, why |
|
Definition
| x-linked recessive, because you can't say dominent/recesive when your only expressing one gene as it has seen to be the case in all males and most all females with fragile x |
|
|
Term
| What disorder type is delayed age of onset a symptom of |
|
Definition
|
|
Term
| What disorders have a delayed age of onset |
|
Definition
| Huntingtons, myotonic dystrophy |
|
|
Term
| What is locus heterogeneity |
|
Definition
| Same phenotype is caused by mutations at different loci |
|
|
Term
| What disease has locus heterogeneity, in regards to inheritance what does this cause |
|
Definition
| Elhers danlos syndrome, several inheritance patterns |
|
|
Term
| What types of instance can elhers danlos have |
|
Definition
| Autosomal dominant and recessive, x linked |
|
|
Term
| What is the mutation in elhers danlos autosomal dominant |
|
Definition
|
|
Term
| What is the mutation in elhers danlos autosomal recessive, what process does this disrupt |
|
Definition
| Mutation in Lysol hydroxylase, processing collagen |
|
|
Term
| What is the mutation in elhers danlos x linked recessive, what does this cause |
|
Definition
| Mutation in copper binding protein gene on the x chromosome leading to reduced copper in serum (copper is involved in lysyloxidase which causes cross linking in collagen) |
|
|
Term
| how do all diseases start |
|
Definition
|
|
Term
| what are the characteristics of a disease that in most cases comes from a new mutation |
|
Definition
| high mortality or decreased fertility |
|
|
Term
| what categories of disorders often come from a new mutation (dominent, recessive, autosomal, X) |
|
Definition
| autosomal dominent, x-linked recessive |
|
|
Term
| what disease did we talk about is an example of a new mutation, what inhertience model is it |
|
Definition
| duschenne muscular dystrophy, x-linked |
|
|
Term
|
Definition
| most recent generations have earlier onset and more severity |
|
|
Term
| what mutation is associated with anticipation, how does the aspects of this mutation correlate with the definition of anticipation |
|
Definition
| trinucleotide repeats, more repeats means more severity, there are more repeats with each generation |
|
|
Term
| what diseases are and example of anticipation |
|
Definition
| myotonic dystrophy, huntington, fragile x |
|
|
Term
| what do we use to evaluate population genetics |
|
Definition
| hardy weinberg equlibrium |
|
|
Term
| what are the assuptions that make the hardy weinberg equlibrium possible |
|
Definition
assume 2 alleles (p and q)
the frequency total is 100%: so p + q = 1 |
|
|
Term
| how do you determine the frequency of the genotype qq |
|
Definition
|
|
Term
| how do you determine the frequency of the genotype pp |
|
Definition
|
|
Term
| how do you determine the frequency of the genotype pq |
|
Definition
|
|
Term
| what are the factors that affect genetic variation |
|
Definition
| mutations, natural selection, heterozygote advantage, genetic drift, gene flow |
|
|
Term
| how much do mutations affect the genetic variation |
|
Definition
| it is different in every population, in humans not that much |
|
|
Term
| what is natural selection |
|
Definition
| influce on gene frequency by selecting for survival or fertility making disease genes more rare |
|
|
Term
|
Definition
| natural selection for fertility |
|
|
Term
| which types of genes are exposed to selection more often |
|
Definition
|
|
Term
| why are recessive genes exposed to selection less often |
|
Definition
| because they are often hidden in the heterozygote |
|
|
Term
| what is the heterozygote advantage |
|
Definition
| when a heterozygote mutation is selected for because it prevents other, worse diseases |
|
|
Term
| what are examples of the heterozygote advantage |
|
Definition
| sickle cell helps milaria, thallesemia helps malaria, cystic fibrosis may help with typhoid fever, G6PD helps malaria |
|
|
Term
| why in sickle cell is the carrier not affected |
|
Definition
| because in the carrier the plasmodium survives poorly giving malaria resistance without too many side effects |
|
|
Term
|
Definition
| in populations with a finite small size rare genes are present because they founders had them and there wasn't much room for genetic variance |
|
|
Term
| what is another name fo genetic drift |
|
Definition
|
|
Term
| what is a disease that is an example of the founder effect |
|
Definition
|
|
Term
| what type of inheritence is ellis van cerveld |
|
Definition
|
|
Term
| what are the symptoms of ellis van cerveld |
|
Definition
| usually in old order amish communities, polydactyly (short limbed dwarfism) |
|
|
Term
| what gene is effected in ellis van cerveld |
|
Definition
|
|
Term
|
Definition
| the exchange of genes amoug populations |
|
|
Term
| what is the cause of methemoglobinemia |
|
Definition
| elevated Met Hb in the blood which has oxidized Fe so it cannot pick up oxygen as well |
|
|
Term
| what are the symptoms of methemoglobinemia |
|
Definition
| blue skin, blood that upon introduction to air stays brown |
|
|
Term
| what happens to normal deoxygenated blood upon esposure to air |
|
Definition
| it immediatly reoxygenates and turns red |
|
|
Term
| what is another name for methemoglobinemia |
|
Definition
|
|
Term
| normal people do get met hb, why are they not blue |
|
Definition
| because normally the body makes enzymes to reduce it |
|
|
Term
| how can someone aquire methemoglobinemia |
|
Definition
| oxidative stress: drugs, antibiotics, thromethoprimcane, anaesthetics, compounds with nitrates |
|
|
Term
| why are infants under 6 mo more prone to methemoglobinemia, what should they stay away from because of this risk |
|
Definition
| they do not have adult levels of the enzymes that combat met hb yet, nitrates ingested in food / water can cause it |
|
|
Term
| what is defective in congenital methemoglobinemia |
|
Definition
| decreased NADH met hb reductace which normally reduces Fe so it can pick up oxygen, increased HbM and HbH. thee enzyme is active just not efficient |
|
|
Term
| what is another name for NADH met hb reductase |
|
Definition
|
|
Term
| what are diseases with congenita methemoglobinemia |
|
Definition
| pyrivate kinase deficiency, G6PDH deficiency |
|
|
Term
| how is methemoglobinemia treated |
|
Definition
| methlyine blue, electron donor reduces Fe back to normal so it can pick up oxygen. gives blue pee |
|
|
Term
| what is the mutation in hippel lindau syndrome |
|
Definition
| nutation in tumor supressor, |
|
|
Term
| many times hippel lundeau is cause by what type of tumor |
|
Definition
| pheochromocytomas: tumors in the adrenal gland |
|
|
Term
| what symptoms does a pheochromocytomas cause, why |
|
Definition
| explosive temper, due to excessive production of adreniline |
|
|
Term
| what genetic trend is lynch syndrome and example of |
|
Definition
|
|
