Term
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Definition
| combination of dna, rna, and proteins arranged into chromosomes |
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Term
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Definition
| study of structure and function of chromosomes |
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Term
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Definition
| dye used to create banding in chromosomes; dark = heterochromatin, light = euchromatin |
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Term
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Definition
| uncontrolled tissue growth, whatever that may be |
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Term
| reasons for chrome analysis |
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Definition
| ab growth, family history, infertility, >35 years, stillbirth, neoplasia |
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Term
| how is karyotype determined? |
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Definition
| stained nucleus in metaphase, arranged accoding to banding patttern, many tissue types usable. |
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Term
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Definition
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Term
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Definition
| exact multiple of haploid (n) |
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Term
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Definition
| not exact multiple of n, forms from nondisjunction |
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Term
| triploid (3n) occurs most often when what happens? |
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Definition
| two sperm one egg; or diploid egg or sperm |
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Term
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Definition
| partial mole, spontaneous abortion |
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Term
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Definition
| a growing nonviable embryo without placenta or fetus, from 2 sperm with no egg DNA |
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Term
| Partial hydatidiform mole |
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Definition
| fetal tissue with placenta maybe fetus, from 2 sperm with 1 egg DNA |
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Term
| Tetraploidy is always 92,xxxx or 92,xxyy? |
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Definition
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Term
| How would you designate trisomy 21, or monosomy x? |
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Definition
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Term
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Definition
| Fluorescent dna sequence to detect specific rearrangements in chrome |
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Term
| What is chromosomal painting? |
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Definition
| Labeling entire chrome with dye to detect complex rearragements |
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Term
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Definition
| genes residing on the same chromosome |
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Term
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Definition
| tendency for alleles on same chromosome to be transmitted together in meiosis |
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Term
| When is allele locus unlinked? |
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Definition
| When on different chromes, even though same loci |
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Term
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Definition
| random association of marker and disease |
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Term
| Do markers equate with disease in linkage analysis? |
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Definition
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Term
| What happens to recombination fraction as loci are closer together? |
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Definition
| It gets smaller, from theta .5 to 0 |
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Term
| Define point, insertion, deletion mutation. |
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Definition
| Change of single base, insert base, delete base |
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Term
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Definition
| repertoire of expressed genes |
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Term
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Definition
| collection of proteins in cell |
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Term
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Definition
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Term
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Definition
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Term
| Define silent, missense, nonsense, read-through mutation |
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Definition
| mutation with no effect on protein, changes protein, extra stop codon, no stop codon where it needs it |
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Term
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Definition
| different forms of a gene, or different common alleles that exist in a species, can be used as genetic markers, silent mutation |
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Term
| Most common polymorphisms? |
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Definition
| Single nucleotide polymorphism |
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Term
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Definition
| haploid reproductive cell |
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Term
| Which process is reduction division, meiosis 1 or 2? |
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Definition
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Term
| When does crossing over occur? |
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Definition
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Term
| Nondisjunction in meiosis 1 what will you get? Meiosis 2? |
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Definition
| M1: aneuploid germ cell with both parental chromes, M2: two copies of one parental chrome |
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Term
| When does the ovum complete meiosis 2? |
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Definition
| When sperm penetrates the egg |
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Term
| List the cytoplasmic components that the ovum contributes to the zygote. |
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Definition
| Nutrients, proteins, mRNA, organelles, mitochondria |
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Term
| Elaborate the development of a sperm. |
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Definition
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Term
| Elaborate on the development of an egg. |
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Definition
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Term
| When does an ovum complete meiosis 1? |
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Definition
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Term
| What part of meiosis do all eggs reside in from birth? |
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Definition
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Term
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Definition
| person being screened for a genetic disease |
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Term
| What is the mode of inheritance for: two mutated alleles, negative family history, higher frequency in ethnic groups and consanguineous matings, associated with enzymatic defects? |
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Definition
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Term
| Mode of inheritance for: one mutant allele, family history positive, generation skipping due to variable penetrance or expressivity? |
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Definition
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Term
| Mode of inheritance for: no male2male transmission, mother carriers, males predominantly affected? |
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Definition
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Term
| Mode of inheritance for: males/females affected equally, no male2male transmission, all daughters of affected father affected? |
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Definition
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Term
| Why is mitochondrial-linked disease variable? |
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Definition
| Due to heteroplasmy, different proportions of normal and mutant DNA in oocytes and tissues |
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Term
| What is restriction fragment length polymorphism? |
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Definition
| A nucleotide change that creates or destroys a restriction endonuclease cutting site |
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Term
| What are the two tandem repeat polymorhisms? |
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Definition
| Variable number, 10-100bp, detected by a southern blot; and short, 2-4bp, detected by PCR |
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Term
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Definition
| proportion of people who have the disease that express it |
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Term
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Definition
| you have disease but symptoms expressed vary |
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Term
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Definition
| genetic disease that is cause by more than one mutation, mechanism, or gene |
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Term
| What is ASO, allele specific oligonucleotide? |
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Definition
| A short DNA probe that will hybridize to desired gene |
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Term
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Definition
| hybridization of a DNA probe to a specimen on filter membrane |
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Term
| PCR, polymerase chain reaction |
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Definition
| very sensitive technique for amplifying a specific, small region of DNA |
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Term
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Definition
| technique for probing larger gene structure, utilizing endonucleases, gel eletro, filters, and DNA probes |
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Term
| What collection methods can be used for prenatal genetic testing? |
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Definition
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Term
| If you do not know the gene for a disease what can you use instead of direct testing? |
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Definition
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Term
| Can direct mutation detection methods be used for unknown genes? |
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Definition
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Term
| Which genetic diagnostics are good for point mutations and microdeletions/insertions? |
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Definition
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Term
| Which diagnostics are good for large deletions? |
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Definition
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Term
| Which diagnostics are good for trinucleotide repeats? |
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Definition
| PCR if small, Southern if large |
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Term
| Define balanaced and unbalanced translocation |
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Definition
| balanced - no gain or loss of DNA, unbalanced – loss or gain of DNA |
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Term
| Robertsonian translocation |
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Definition
| translocation of DNA between acrocentric genes 13, 14, 15, 21, 22; may be balanced or unbalanced, most common translocation |
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Term
| Why can an embryo survive that has trisomy 10,13,21, or x? |
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Definition
| because relative to the size of the chromosome there are fewer genes, therefore less interaction problems |
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Term
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Definition
| chrome with no visible “p” arm |
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Term
| Define the function of the 3 RNAPs, RNA polymerases 1,2,3 |
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Definition
| 1, synthesis of most rRNA, 2, synthesis of mRNA, 3, synthesis of 5S rRNA and tRNA |
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Term
| Identify the five steps of mRNA transcription |
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Definition
| 1, transcription factors recognize promoter elements, 2, recruitment of RNAP 2, 3, tissue specific activators bind to enhancers, 4, RNAP 2 fires, 5, mRNA elongation and termination |
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Term
| What is a protein that has a DNA binding domain and activator/repressor domain and normally binds to promoter/enhancer regions upstream of genes to regulate their expression? |
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Definition
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Term
| Which strand do RNAP’s bind to, template strand or antisense strand? |
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Definition
| Trick question, they are the same thing. |
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Term
| Which direction do RNAP’s read the template strand and which direction for synthesizing? |
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Definition
| Read, 3’>5’, Synthesize, 5’>3’ |
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Term
| What is added to a completed mRNA to protect it from the environment? |
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Definition
| 5’ methyl cap and a 3’ polyadenylated tail |
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Term
| Define the regions in both the untranscribed portion of DNA and the transcribed region. |
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Definition
| Untrans, has promoters to specify start and enhacers/silencers to regulate promoter; Trans, exons are sequences in the final mRNA and introns are junk which is spliced out of first mRNA transcript |
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Term
| What is monocistronic mRNA? |
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Definition
| mRNA codes for only one protein |
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Term
| Does the large or small ribosomal subunit have the machinery for peptide bond formation and translocation of the polypep chain? |
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Definition
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Term
| Do antibiotics and toxins function to inhibit RNA translation? |
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Definition
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Term
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Definition
| An agent that can carry DNA into a cell |
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Term
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Definition
| Circular extrachromosomal DNA capable of autonomous replication |
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Term
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Definition
| virus that infects bacteria |
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Term
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Definition
| an enzyme that recognizes a cleaves specific sections of DNA |
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Term
| Technique used to detect mRNA after gel electrophoresis |
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Definition
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Term
| What is a modified plasmid or virus carrying a gene or cDNA into a cell to enable the protein to be encoded? |
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Definition
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Term
| What changes can a Southern blot identify in a genome? |
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Definition
| Specific genes, large changes, point mutations that modify restriction enzyme sites, gene amplification |
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Term
| What technique can be used to measure gene expression? |
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Definition
| Northern blot, reverse transcription PCR |
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Term
| What can a a northern blot detect? |
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Definition
| Levels of mRNA, specific gene expression, changes in transcript size, changes in levels of expression |
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Term
| List 3 expression systems that can produce recombinant therapeutic medicines. |
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Definition
| Bacterial, Eukaryotic, mammalian cells |
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Term
| Which chromosomes have the greatest number of genes? |
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Definition
| It starts with and descends to the Y chrome |
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Term
| Do CpG islands in chromes regulate gene activity? |
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Definition
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Term
| Is the human genome evenly spaced with genes? |
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Definition
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Term
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Definition
| both members of a twin pair share a trait |
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Term
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Definition
| members of a twin pair do not share a trait |
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Term
| What is the term for risk of occurrence/recurrence of a disease that based on observation of families with the disease versus Mendellian ratios? |
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Definition
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Term
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Definition
| clustering of individuals with a disease within families |
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Term
| What is the term for the percentage of a population variation of a trait/disease that is due to genes as opposed to the environment? |
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Definition
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Term
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Definition
| physical characterisitics measured on a continuous scale, like height /blood pressure |
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Term
| What two approaches can be used to sort out the contributions of genetic and environmental factors of disease? |
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Definition
| Familial aggregation and comparing concordance and allele-sharing among relatives |
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Term
| Due both genotype and environmental factors influence the phenotypic expression of disease? Even within the same family or for “simple” disorders? |
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Definition
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Term
| True or False: Common, complex diseases are due to the same set of genetic and environmental factors in each patient. |
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Definition
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Term
| Due a majority or minority of common, complex diseases stem from simple Mendelian genetics? |
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Definition
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Term
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Definition
| Describes a ribbon-like, protein-containing complex holding chromosomes together |
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Term
| Test to use: gene present and grossly normal structure? |
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Definition
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Term
| Test to use: is one of a number of known mutations responsible? |
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Definition
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Term
| Test to use: what mutation is responsible since no known causes found? |
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Definition
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Term
| Differential gene splicing happens where? |
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Definition
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Term
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Definition
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Term
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Definition
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Term
| most common form of hereditary deafness is? |
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Definition
| Non-syndromic and recessive |
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Term
| Are the different combinations of sequence-specific DNA transcription factors responsible for the different phenotypes expressed? |
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Definition
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Term
| What is mosaicism, and its most common form? |
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Definition
| Two populations of cells with a different genotype, usually stemming from trisomy which occurred during develoment |
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Term
| Elaborate on translation once the mRNA binds to the rRNA. |
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Definition
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Term
| True or False: CpG islands may act as proximal promoter elements |
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Definition
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Term
| what is a transcription factor? |
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Definition
| a protein with activator/repressor binding sites that also binds to promoter or enhancer regions upstream of DNA to express or inhibit gene expression. |
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