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There are systematic changes with which society changes over time (& it's natural). |
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- all men are created equal - the mind is an empty cabinet |
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unilineal evolution, came up with idea of savagery>barbarism>civilization |
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savagery>barbarism>civilization |
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progressive change; stasis is not normal & tese terms can apply to society, politics, psychology, etc |
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Carolus Linneaus (Carl von Linne) |
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Created Taxonomy and grouping with 4 human races: 1. White 2. asianic 3. european 4. negro |
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Anatomist that identified the "bone of contention" that separates man from other apes: premaxilary bone |
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racial (biological) determinism |
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personality is caused by the same thing that physiological traits are (polygenesis) |
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creations: A single creation vs many creations |
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environmental determinism |
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Nurture vs. nature (climat & weather); personality is caused by your living situations & conditions (monogenesis) |
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Comte de Buffon (George Louis le Clerc) |
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-Naturalist -Environmental determinist - first to use race in regards to humans -contemporary of lineus - only agree with taxonomy's species - thought other classifications implied evolution |
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The idea that there have been many catastrophes that have wiped out species |
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Rev Samuel Stanhope Smith |
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Thought that black skin was merely a giant freckle gone haywire |
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Johann Frederick Blumenbach |
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-Father of Biological Anthropology - Not a biological determinist -Paleoanthropologist -Introduced caucosoid -rejected racial determinism - thought cranium was the best thing to use to measure traits |
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Immanuel Kant (Bergmanns Rule) |
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Adaptation of the body size based on environment |
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Jean-Baptiste de Monet de Lamarck |
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-Inheritance of acquired characteristics (giraffe example) -didn't use personalities to identify races - recognized overlaps in morphological traits from racial groups; wasn't "real" |
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inheritance of acquired characteristics |
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Voltaire (Francois Marie Arouet) |
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-poet/philosopher - civil activist (civil rights, freedom of speech/religion) - Ended up living in bastille; convinced french that exile was worth than death so they sent him to England -Supportive of Sir Isaac Newton - believed in separate creations - difference in states due to intelligence rates (jews vs christians, whites vs africans) |
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-Thought there were no civilizations made by non-whites - Scottish - Difference in states due to intelligence rates (jews vs christians, whites vs africans) |
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- Plantation owner in Jamaica - Believed that Europeans and Africans were different species, not different races - His views were used as a way to support slavery in the south |
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- Social activist who favored natural birthing - gradations - thought africans were closer to whites than apes but had smaller brains |
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- Swedish - invented a way to measure systematic differences of people: Cephalic index |
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measurement of breadth of cranium: (breadth/length) x 100 |
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dolichocephaly/mesocephaly/brachycephaly |
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dolichocephaly - broad (sweeds) mesocephaly - in between brachycephaly - narrow ( fins) |
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exrapolating reasons for certain differences in two or more groups and using assumptions from anthropomorphic measurements; totally ignores that correlation does not prove causation |
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-Renamed "cranioscopy" o r "phrenology" - Moved to US and met charles Caldwel @ Transylvania college (Lexington, KY) (Caldwel made phrenology a basis for medical teaching). |
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- Leader of French Anthropology - French Neurosurgen - Believed in different types ofspecialism; different areas of the brain - Had the Broca's area in brain named after him, which is the center of speech - different racial groups have different abilities - studied hybridization, not sterile but semi-sterile |
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new term for craniology as termed by Spurzheim |
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- Hopewell study - Taught anatomy @ UPenn -"founder" of american school of anthropology - cautiously respectful of phrenology - interested in cranial capacity; measured in mustard seeds |
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Stephen J. Gould (The Mismeasure of Man) |
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- Restudied Morton's Hopewell study and books & pointed out biases, including inpropper representations in his data |
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- Created in 1860's - in charge of monitoring health of union soldiers - performed anthropomorphic measurements , mostly minorities - one of the 1st attempts to collect data on this scale of this info |
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- Belgian astronomer - collected analytical data in the places where he had large groups of people as a captive audience - interested in correlating normal vs. criminal types - trained as a mathematician and statistician - one of the first people to use statistics w/ demographics |
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Quetelet tried to categorize this |
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- heavily influenced by evolution - Neanderthal genes correlated with criminal behavior - came up with "born criminal" idea - born criminal: measurements dictate criminal acivity |
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5 inferior traits: - receding forehead - large ears - square, projecting jaw - broad cheekbones - left handedness |
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- Clergyman - founding father of demography - studied population density - without growth a population would become too big to survive - starvation |
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Charles Lyell (uniformitarianism) |
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- Founding father of geography - uniformitarianism: same thign that happens now has happened all the time |
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survival of the fittest (fitness) |
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solved darwin's 3rd dilema w/ incomplete dominance of evening primrose flowers |
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particulate theory of inheritance |
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laws of segregation and independent assortment |
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dominant/recessive inheritance |
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- UCD Professor -induced mutations in fruit flies |
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Eugenics (positive and negative) |
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Francis Galton (normal distribution) |
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Karl Pearson (correlation) |
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Immigration Restriction Act of 1924 |
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- feble mindedness - created IQ test to help ID students in france that needed extra help in school |
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Franz Boas (“Report on Changes of the Bodily Form of |
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Descendants of Immigrants”) |
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Carlton Coon (The Origin of Races) |
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Sherwood Washburn (the “New Physical Anthropology”) |
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ABO blood group polymorphism |
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autosomal recessive hypothesis |
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sergregation parameter (segregation ratio)=q |
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coefficients for terms of binomial expansion |
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chi-square test for goodness of fit |
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expected value of r, the number of affected offspring in a family of size s [ E(r) ] |
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total number of “affected” offspring over all families (R) |
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test of hypothesis that Σ [E(r)] = R |
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truncated selection model of autosomal recessive hypothesis |
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test of hypothesis that p=0.25 |
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Hardy-Weingerg equilibrium |
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microevolution/macroevolution |
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law of joint probabilities |
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Pr(A)=p, Pr(a)=q Pr(AA)=p2, Pr(Aa)=2pq, Pr(aa)=q2 p2+2pq+ q2=1 |
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proof of H-W equilibrium (see handout in Smartsite Resources) |
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MN blood group system (2 co-dominant alleles, M & N) |
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absorption (to remove non-specific antibodies from M anti-serum absorb serum with type N RBCs) |
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chi-square test for goodness of fit with n-1 degrees of freedom (df) |
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Square root method of estimating frequencies of 3 alleles at a locus |
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Bernstein’s correction method |
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Chi-square test for homogeneity with df=(r-1)(n-1) |
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selection coefficient (si=1-wi) |
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n=q0-q1/q0q1 where n=number of generations required to change q0 to q1 under complete selection against allele “a” |
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balancing selection (heterozygote advantage)-at equilibrium pe=s3/s1+s3 and qe=s1/s1+s3 _ |
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genetic load (segregational and mutational components)=1-w |
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sickle cell anemia/falciparum malaria |
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rate of change in allele “a” under selection: Δq=pq[q(w3-w2)+p(w2-w1)]/w |
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purifying selection/positive selection |
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mutation rate (μ= average #mutations/gamete/genome/generation) |
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Pn=P0(1-μ)n=P0e-nμ and μ=-ln (Pn/P0)/n |
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reverse mutation rate (v) |
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Δp=vq-μp: at equilibrium Δpe=0, hence, μpe=vqe and pe=v/μ+v and qe=μ/μ+v |
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admixture from population #2 in a hybrid population=m2=qH-q1/q2-q1 where qH, q1 and q2 are frequencies of an allele in the hybrid population and populations at the origin and destination of the hybrid population, respectively |
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hybrid vigor (euheterosis vs luxuriance) |
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random genetic drift (sampling effects): p1=p0 +/- δp = p0 +/- √(p0q0/2N) |
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positive/negative assortative mating |
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consanguineous inbreeding coefficient: FX=Σ(1/2)n1+n2+1 |
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coefficient of relationship (kinship coefficient): fXY=Σ(1/2)n1+n2 |
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random inbreeding: ΔF=1/2N, Ft=1-[1-(1/2N)t] , and p12=p02+F0pq but p0=p1 |
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Pre/post zygotic selection |
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Duffy (Fy) antigen or DARC (Duffy ntigen receptor for Chemokines) |
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ancestry informative marker (AIM) |
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non-synonymous/synonymous mutation |
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Glucose-6-phosphate dehydrogenase (G6PD) |
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phenylthiocarbamide (PTC) |
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cerumen polymorphism (ABCCII gene) |
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1. PCA 2. RFLP 3. mtDNA 4. STRs 5. SNPs 6. Sanger sequences |
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PCR ( Polymerase chain reaction) |
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Tools for DNA Analysis - The polymerase chain reaction (PCR) is a biochemical technology in molecular biology to amplify a single or a few copies of a piece of DNA across several orders of magnitude, generating thousands to millions of copies of a particular DNA sequence. 3. Primer sequences! 4. polymerase enzyme that activates transcription in the body, called TAC polymerase (comes from an organism discovered in the hot water pools in yosemite - hot hot hot!) (Reaction run in thermocyclid) Requires:. DNTPs Requires: template DNA 1. Denature DNA to 94 C 2. Primer annealing (little over 50 C) 3. Transcription (temp up to 70 C)
you receive 2^n copies of DNA |
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RFLP (restriction fragment length polymorphism) |
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Tools for DNA Analysis - a technique that exploits variations in homologous DNA sequences by using restriction enzymes to cut DNA fragments - a site where an enzyme has cut is called a RFLP |
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mtDNA (mitochondrial DNA) |
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Tool for DNA Analysis - Used in genealogical studies, found in mitochondria (it has about 16.5 kilobase).
high mutation rate but is not under selection
resistant to decay because it comes in large quantities
circular
contains coding sequences for 37 genes that normally involve self replication of mitochondrial DNA.
No entrons in genes, only exons.
Different genetic code than nuclear genome - unique stop codon in humans UGA, in mtDNA this codes for tryptophan
different coding
control region 1200-1500 base paris- 10x more rapidly evolving (mtRNA usually is rap evolv; 10x faster than nuclear region) b/c it has no editing abilities and it is subject to the oxidative products of the RTC |
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Tools for DNA Analysis -evolved through slippage, like hiccups -can be several nucleotides, like atatatatat or attattattatt, etch |
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Tools for DNA Analysis - single mutation polymorphisms - May exhibit homoplasy! Less informative than STRs |
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Tools for DNA Analysis - didoxy method of sequencing, reamplifies sequence using just one primer and then another sequence using another primer, using a small portion of DNTP that has been modified so that it cannot accept another nucleotide- will stop adding to the chain. Using fluorescent dye makes the stops detectable, letting you electrophoretic ally separate them by size |
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A field of anthropology in which molecular analysis is used to determine evolutionary links between ancient and modern human populations, as well as between contemporary species
Includes: origins ancestry genetic differences
When were certain areas settled, etc? When were migrations and what were the routes? Discreet or continuous migrations? Back migration? Demographic Changes? Selection patterns? |
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ancestral node from which two species decend |
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using an outgroup to determine if the evolution rate of two species is the same: AC=AO+OC BC=BO+OC if AO=BO then AC=BC & evolution is ocuring at a constant rate over time |
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UPGMA (unweighted pair group method of averages) |
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appealing for it's simplicity & method of choice if there is a confirmed constant rate
1. connect a node with the most similar populations 2. both branches should be equal, so divide genetic distance by 2 3. add another branch for the next closest, taking the average and subtracting the first value from one of the branches, making the longer of the two branches the initial 1/2 value. 4. repeat until you're done! |
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Adenine and guanine (3 hydrogen bonds) |
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Cytosine, thymine, uracil |
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Funded by national human genome research institute - started in 1990 & completed in 2003 |
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enzymes that are made by bacterial organisms as part of their immune system - designed to protect themselves against the attack of viruses, etc
They can recognize particular short sequences of DNA/nucleotides in a specific order & then makes 2 cuts in each half of the DNA |
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restriction enzyme that recognized sequence GTCGAC CAGCTG and cuts it 1/2 way: GTC | GAC CAG | CTG |
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high resolution restriction analysis |
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using a high volume of restriction enzymes |
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is a combination of alleles (DNA sequences) at adjacent locations (loci) on a chromosome that are inherited together |
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comprises some number of similar haplotypes that share certain things in common |
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a method of sequencing the entire order of nucleotides in an amplified fragment using a di-deoxy method |
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after amplifying a fragment, you re-amplify the fragment using two primers to |
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dNTP (deoxyribonucleotide triphosphates) |
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(dNTPs) are critical components for molecular biology techniques such as PCR, sequencing, nick translation, and cDNA synthesis. Life Technologies offers a variety of dNTPs that can help you to achieve optimum PCR results.
All dNTP formulations are designed for convenience and flexibility. They are available in ready-to-use concentrations for a range of reaction volumes and applications. |
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once one is added to chain of nucleotides being added to, it does no allow any more nucleotides to be added |
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earliest still surviving haplogroup whic diverged into groups Lsub2 and Lsub3 (Lsub3 then diverged into Lsub3a) |
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haplogroup from the original migrants from africa to southeast asia
diversified into subsets: M and N
Native america was the testing ground for testing this data |
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microsatellite (STRs; short tandem repeats) |
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identified in 1961, named after sputnik
subset of a much larger group of repeat segments in DNA called VNTRs
gradually grow in size and then gradually reduce in size randomly
~20,000-30,000 in human genome |
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transposable elements (retro-transposons) |
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long (LINES) interspersed nuclear elements |
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comprise of 21 % of entire genome (~.5million in human genome) |
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variable number of tandem repeats (VNTRS) |
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satellite, microsatellite, macrosatellite |
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pseudo-autosomal regions (PAR1 and PAR2) |
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single nucleotide polymorphisms (SNPs) |
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A single substitution in a DNA sequence
estimated to be several tens of thousands in the human genome & they can be found about every several hundred base pairs(~10million in the human genome)
less prone to mutation than STRs |
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portion of Y chromosome that is non-recombining |
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used to track males from certain times and spaces (precursor haplotypes of males), often used in studying native american migration patterns
few restriction sights |
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pairs of chromosomes which contain a paternal and maternal copy |
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ATATATATATAT allele #1 is ATATAT allele #2 is ATATATAT Allele #3 is ATATATATAT |
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number of repeats (mono, di, tri, tetranucleotide repeats) |
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the same in state but not in ancestry
such as STRs, which have high mutation rate but often get lazy/hickup and end up adding or subtracting alleles:
5--> 4 3--> 4 |
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when a structurally similar nucleotide is replaced with another nucleotide of roughly the same shape C<-->T G<-->A |
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when a nucleotide is replaced with another nucleotide of a different shape
C-->A G-->T |
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amplify only if a particular nucleotide is present at a site |
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constructed of 3 billion base pairs 32k genes that represent our exome (less than ~1.5% of entire genome) |
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introns that are spliced out of messenger RNA and excluded in coding sequences, much larger than exons (3500 base pairs) |
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can be 2.7megabase(2.7 million) |
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sequences at the end of exons that identify the location of splicing
mutations in these sights can do something but i have no idea because Katie made me lose my train of though |
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LINES that has a GGACTT snip code, super abundant in human genome - found in AT rich areas |
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short (SINES) interspersed nuclear elements |
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found in GC rich regions of genome - uses alu 1 restriction enzyme to find alu elements
jumping elements that indicate the ancestral state of an organism b/c there is no other alu element in any other time in that location
found in tree shrews, rabbits, & closely related animals |
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cuts alu element into 120 and 170 pair elements |
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absense and then appearance |
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multifactorial (polygenic) inheritance |
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depends on more than one gene, can also be influenced by the environment |
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Charles Davenport (Race Crossing in Jamaica) |
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Leader of Eugenics movement in America argued that people with the lightest color skin were homozygous for aa allele, while dark skinned colors were AA for pigment conferring alleles |
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all alleles have equal additive effects on |
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systematic change in the average phenotype over time - usually the result of a sudden environmental change - a pivotal point for Darwin's theories
example: relaxation of selection pressure of colorblindness |
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a gradual reduction in phenotypic variance - extreme phenotypes become less prominant
example: selection among average sized children at birth |
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disruptive (diversifying) selection |
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where there is a tendency towards speciation in phenotypes x and y usually due to a change in environment - can lead to to total speciation (two humpz) |
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cells that produce a pigment granule called melanin
~1000 in mm^2 of skin |
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the predominant cell type in the epidermis, the outermost layer of the skin, constituting 90% of the cells found there |
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phenylalinine hydroxylase |
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converts phenylalanine to tyrosine |
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the gene that codes for this is located on the Q arm of Chromosome 11
converts tyrosine-->DOPA-->dopaquinine-->2 types of melanin
VERY DEPENDANT ON pH LEVEL |
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glutathione (GSH)- inhibits tyrosinase activity, but converted to oxidized glutathione (reducing inhibitory effect of GSH) by UV light |
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the darkest pigmented populations of all mammalian species tend to live closer to equatorial areas |
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Rickets (osteomalacia in children) |
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(osteomalacia in children) caused by inadequate calcium in bones |
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you have skin pigment to prevent skin cancer
ex: white australians get skin cancer at a ratio of 200 per 1000
doesn't provide evidence of why purifying selection wouldn't have eliminated light skin colors
ex: albinos tat live in Africa typically develop skin cancer in their 20s |
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proposed cold injury hypothesis |
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skin cancer cells, often cloned & frozen for experiements - noted that the most highly pigmented melanoma cells exhibit a loss of melanin content over time while those cells that were light pigmented do not suffer a decline in melanin content of the skin - done under freezing and refrigeration. |
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nutrient photolysis hypothesis |
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developed in the late 70s by 2 physicians @ U Minnesota
Dark skin evolved in early humans to minimize the photolysis effect caused by light interacting with Folic Acid |
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a deficiency of this in pregnancy results in infant mortality, birth defects and infertility before hand
super light sensitive |
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-non synonymous mutation -100% mutation in europe, absent elsewhere -predicted to be responsible for 30-40% of difference in skin color between europeans and africans -also affects fish! |
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melanocortin 1 receptor (MCR1R)-loss of function mutation caused red hair |
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melanocyte stimulating hormone (MSH) |
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enhances eumelanin production |
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Agouti-stimulasting hormone |
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-competes with MSH for binding to MCR1R and enhances phaeomelanin production |
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gene who's roll has something to do with the transport and process of tyrosine non synonymous mutation caused by single snip - |
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found on long arm of chromosome 15
many mutations in this gene lead to a form of albinism called occulotaneous albinism (depigments eyes and skin, not just eyes) ~80 different mutations on this locus that lead to albinism -separate mutation that causes no synonymous replacement of histamine to argentine replacement - highest occurrence in east asia |
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encodes a articular cytocine that regulates distribution of melanocytes ~15-20% of color difference between Europe & africa |
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t=(see notes) the assumption that a distribution is normal; useful for comparing data about multifactorial traits
developed by William Gossett (worked for Guinness brewery)
was used to test the quality of different brews! |
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skin color as is influenced by the genes that cause skin color |
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skin color as is influenced by different mechanisms that can enhance pigmentation usually in a temporary fashion -
Ex: such as the thickness of the corneum stratum (the thicker it is the more your skin looks grey) Ex: tanning |
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inhibits effect of UV light on the lower epidermis because the pigmentation blocks UV from reaching the lower level |
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Allen and Bergman's- heat loss is dependent on surface area, difference in internal and external temps, and the thickness of the shell. |
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Enamel extension, enamel pearls |
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popularized by Francis Galton |
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radial points away from the midsagital plane of the body, ulnar points in |
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count of all triradi - one of the two major parameters for fingerprints that are under genetic control and can be compared among genetic populations |
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average of the ridges from the axes to each of the triradi - males - 145 females - 137 one of the two major parametersfor fingerprints that are under genetic control and can be compared amung genetic polulations -polygenic trait |
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areas with darkest skin color |
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converted from the steroid 7-hydrocholesteral by UV light -facilitates absorption of calcium from the gut can lead to calcification of soft tissue (kidney stones) |
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argued that people have the appropriate level of skin pigmentation to assure just the right amount of penetration of UV radiation in the lower epidermis of the skin to produce just the right amount of vitamin D |
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cold injury hypothesis aka post hypothesis |
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dark colored skin is more susceptible to cold injury than light colored skin - is it melanin that is responsible for this, or something else? |
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caused by excess of calcium absorption from the gut |
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branding an animal by freezing their skin |
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proved that dark colored skin gets damaged by cold more than light pigmented skin |
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eliminated by purifying selection everywhere but Europe - responsible for 8% of skin color differentiation in human pop |
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popularized fingerprints as differentiatingrea mechanisms (strongly genetically determinant) |
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the triangular parts of fingertips where loops and other lines meet (and make triangles) |
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when a cell has an incorrect humber of chromosomes - caused by mistake in cell division -
good example is down syndrome, where there are 3 copies of chromosome 21 instead of 2! -can make all prints ulnar loops on all digits (4% in normal population, 33% in down syndrome populations) or - having radial loops on 4th fingertips (rare in most tests, almost full occurrence in down syndrome pops) - having no loops and only tents on fingertips -chromosomes 13, 14 and 15 are commonly associated with radial loops on the 4th and 5th digit (5th = pinky) (common for general pop to have radial loops but that's typically found on the index finger) -x chromosome has been implicated in having an effect on patterns |
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XO sex genotype 165 average total ridge count (vs 145 (male), 127 (female), 114(XXY) and 17 (super females XXXXX)) |
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phenotypic variance (V subP) |
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genetic variance (V subG) |
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environmental variance (V subE) |
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degree of genetic determination (H) |
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V subG/V subP - bound between 0 and 1 (0 if Vmz is 1, 1 if Vmz is 0) |
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studied the thorax link of a fruit fly species with regards to phenotypic/genetic/environmental variance V subP = ~14.4% V subP when ~37% SO: V subG = ~49% |
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individuals who share 100% of DNA all variance is environmental |
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co-wrote genetic basis of morphological variation with DeGeorge
Found a genetic link on many anthropometric characteristics by studying twins |
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co-wrote genetic basis of morphological variation with Oborne
Found a genetic link on many anthropometric characteristics by studying twins |
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Genetic Basis of Morphological Variation |
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additive affect of genes (VsubA) |
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deviation from additivity (VsubD) |
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one subset of VsubG -occurs when there are dominant and recessive genes on certain loci |
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least square regression line (Yi=βXi +α) |
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minimizes distance between the observed data and the regression line used to summarize that data
x = value of phenotype for a certain individual, observed parent phenotype (dots!) (α) = y-intercept (β) = slope |
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point that a least square regression line crosses the y axis |
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slope of regression line (β) |
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ratio of rise over run of a least square regression line |
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α=(ΣY)(ΣX2)-(ΣX)(ΣXY)/NΣX2-(ΣX)2 |
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β=NΣXY-(ΣX)(ΣY)/N(ΣX2)-(ΣX)2 = covXY/(σ^2)X = h^2/2 |
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r=covXY/σXσY Note: if σX = σY , then r = β |
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_ total variance = Σ(Yi-Y)^2 |
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∧ _ explained variance = Σ(Yi-Y)^2 |
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∧ unexplained variance = Σ(Yi-Yi)^2 |
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_ ∧ _ ∧ Σ(Yi-Y)2 = Σ(Yi- Y)2 + Σ(Yi-Yi)2 |
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∧ _ _ r^2 = Σ(Yi- Y)2/ Σ(Yi- Y)2 |
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r√N-2/√1-r2 is distributed as a t statistic with N-2 degrees of freedom - if N>30, and t > 1.65 or < -1.65, reject H0 that r = 0 |
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interaction between different genes- even if two genes do not contribute to phenotypic variance, they may affect each other |
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genetic X environment interaction |
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same as epistasis but it's phenotypes vs environmental interactions |
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heritability in the broad sense |
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V subP = Σ(XsubL- mean of X)^2/ N = VsubG +VsubE |
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individuals who share 50% of DNA |
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Phenotypic Varance in twins |
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V subP in twins= Σ(Xi-Yi)^2/N = VsubpsubDZ - VsubpsubMZ / VsubpsubDZ = VsubG/VsubP = H |
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heritability in the narrow sense, may = the genetic determination if traits are additive |
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A pRticular species inhabits multiple environments and starts to act differently in the environment- leads to speciation! Yeah! It's the clinneeeeee! |
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