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49 Cards in this Set
- Front
- Back
where mtDNA is found in organism
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in cytoplasm of cells, not nucleus
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DNA end cap
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telomere
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internal structures of chromosomes that are used in cell division
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centromere
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a specified place in a standardized genome
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locus
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a part of DNA containing a unit of sequence based biological function
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gene
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change in gene expression due to environmental factors, not by changes in DNA structure
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epigenetic
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how are chromosomes numbered
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according to decreasing length. 1 is longest, 22 is shortest
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share common evolutionary ancestry, carry matching genetic info, same gene loci in same order
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homologous chromosomes or homologues
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two chromosome arms are same length
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metacentric
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p arm of chromosome is short
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acrocentric
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uses specific DNA segments labeled with flourescent dye to reveal anomolies
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FISH, flourescence in situ hybridization
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used for diagnosing chromosomal anomolies; different tags used for regionson each chromosome, and pattern appears as different colors, called chromosome painting
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SKY: spectral karyotyping
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class of DNA: regular genes, regulatory genes, not/unknown functional DNA
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single-copy DNA sequences
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class of DNA: micro, mini, or just plain satellite DNA; clustered tandem repeats of short DNA; copies are adjacent to each other on chromosome
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tandemly repetitive DNA
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class of DNA: copied from one place in the genome and inserted elsewhere; copies located all over the genome
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dispersed repetitive DNA
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a form of structural variation in the genome and refers to differences in the number of copies of a particular region in the genome
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Copy Number Variation
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this much of genome is single copy DNA
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50%
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how do single copy and repetitive DNA sit in regards to each other in the genome
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single copy is found in short regions, interspersed with repetitive DNA
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where minisatellites found
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anywhere on chromosome
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where microsatellites found
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near centro and telomeres
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171 bp repeat near human centromeres
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alphoid satellites
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short, highly repetitive DNA with high GC content
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minisatellite
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simple repeat sequence DNA, about 2-6 base pair repeat unit, AKA STR
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microsatellite
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are microsatellites heterozygous or homozygous
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many have high heterozygosity, meaning most individuals have different alleles on their two copies of microsatellite locus
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how do copy number variations arise?
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slippage errors in replication
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two classes of dispersed repetitve DNA
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SINES-90-500 bp
LINES-up to 7 kb |
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sequences of DNA that can move around to different positions within the genome of a single cell
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transposons
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how do retrotransposons work
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they are in DNA, make RNA copies, and then reverse copy back into DNA that reinserts elsewhere in genome
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how do transposons work
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make and insert copies without going through an RNA intermediate
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length of repeat elements
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Lines 6-8kb
sines 100-300 bp retrovirus-like elements - 6-11 kb dna transposon copies 2-3 kb |
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highly repetitive dna found here
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near centromere and telomere
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inversion including the centromere
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paricentric
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inversion not including the centromere
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paracentric
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two nonhomologous chromosomes exchange material
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translocation
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translocation where everything is still present, positions are just switched; causes trouble in alignment during meiosis, offspring have duplications or deletions
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balanced translocation
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monosomy x
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turner syndrome
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xyy syndrome
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delayed mental maturation, somewhat taller, more active; once thought to be a criminal genotype
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XX..Y
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Klinefelter's syndrome: somewhat feminized physical appearance of gonadally normal males, slightly delayed maturation
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mutation with no change in AA structure
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synonymous mutation
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mutation with change in AA structure
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nonsynonymous mutation
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nonconservative or conservative AA substitution
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missense mutation
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single base insertion causing frame shift and premature termination
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nonsense mutation
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inactivated genes
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pseudogenes
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CpG to TcG
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deamination of C to T especially at methylated sites. C to U is usually caught, but if methylated, U becomes T
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transcription factors on the same chromosome
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cis-regulatory factors
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the region of mRNA that is not translated into amino acid sequence. Can be 5’ or 3’ and have a variety of functions.
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UTR
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the greater the specificity of the function of a gene,
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the less variable a genome region is
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Basic categories of relationship or ‘states of being’, or kinds of things
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ontology
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a system of categorizing gene function in three basic ways: Molecular Function, Biological Processes, and Cellular Components
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gene ontology
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