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Modern Human Physical Variation > Midterm Review Sheet > Flashcards

Midterm Review Sheet Flashcards

1
Q

Physical Anthropology

A
  1. Study of human biology within the FRAMEWORK OF EVOLUTION (how related to non-human primates)
  2. Emphasis on the interaction between BIOLOGY and CULTURE
  3. Physical vs Biological Anthropology
    (Phy) Description of HUMAN PHYSICAL VARIATION
    (Bio) Influence of GENETICS and MOLECULAR BIOLOGY (now not just physical body)
  4. 2 principles in 18th/19th century: Origins of modern species (didn’t think from Africa, where scholar from where we originated) and Human variation/ “Race” - Racist (where start to see races)
  5. Naturalists/ Natural Historians (did best with knowledge they had)
  6. Early American physical anthropology (mid 19th to early 20th century) Physicians/Anatomists, Measuring bodies & skulls, Biologically defining human races/ pseudoscientific (problem back then think it was race), Comparative anatomy of non-human primates
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2
Q

Biological Anthropology

A
  1. Franz Boas (father of American Anthropology), PHD in physics, train 2-3 generations of anthropologists (your advisor goes back to Boas or the others), In Europe all subtopics of anthro in dif categories He combined them for America, *other thought being scientific but being racist calls the idea of races bullshit (pseudoscience)
  2. Biological & cultural aspects of what it means to be human (others though why study cause it’s history), HUMAN ORIGINS, HUMAN VARIATION,
  3. Role of Natural Selection & Genetics
  4. Scientific studies of races *
  5. Other key figures: Ales Hrdlicka, Earnest Hooton, & Sherwood Washburn, Trained several generations of pivotal scholars
  6. 1930-1940s: Emergence of distant sub fields in Biological Anthropology (Paleoanthropology, Skeletal Biology, Human Osteology, Paleopathology, Bioarchaeology(late 70s-80s), Forensic Anthropology, Primatology, & Human Biology (focus in here)
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3
Q

Anthropometry

A

Measuring bodies

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4
Q

Franz Boas

A
  1. Franz Boas (father of American Anthropology), PHD in physics, train 2-3 generations of anthropologists (your advisor goes back to Boas or the others), In Europe all subtopics of anthro in dif categories He combined them for America, *other thought being scientific but being racist calls the idea of races bullshit (pseudoscience)
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5
Q

Human Population Biology

A
  1. (Modern) Human Variation: Human growth and development (what’s the influence), Adaptation to environmental extremes, Human genetics
  2. “Founding Fathers”
  3. Human Adaptability (not behavior): … limit or range of ability of humans to adapt
  4. Interdisciplinary: anatomy, genetics, demography, ecology, epidemiology, nutrition, physiology, etc
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6
Q

Raymond Pearl

A
  1. Human Biologist
  2. Training: Dartmouth College (BS), University of Michigan (PHD)
  3. Faculty positions: U of Michigan, U of Penn, U of Maine, John Hopkins University
  4. Interests: Application of STATISTICAL METHODS TO BIOLOGICAL PROBLEMS, REFUTING EUGENICS (African and Natives), Alcohol and tobacco association with longevity (non smokers 22% greater survival rates compared to heavy smokers (research repressed by big tobacco companies), used to be given tobacco for asthma, military given cigs automatically when going to war)
  5. Research Approach: Molecular genetic, biometric & quantitative focus on populations (Ex. To see what low, high, normal blood pressures) (Data- Literature or own work), Experimental studies
  6. Publications & Acclaims: Studies in Human Biology(lots of physical things and flus), Natural History of Population (overpopulation and fertility), 3rd president of American Association of Physical (now biological) Anthropology (Raymond Pearl award given at organization event to who did good job), Member of National Academy of Sciences (in it you’re good at your job)
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7
Q

Paul T. Baker

A
  1. Dr. Trask’s academic grandfather
  2. Training: U of New Mexico (BA), Harvard (PHD)
  3. US Army Quartermaster Corps: US Army Climatic Research Lab, Heat Stress (hot-wet/hot-dry), Cold Stress, Military personnel (to know about adaptations)
  4. Heat Stress Research: how humans responded to extreme environments
  5. Faculty at Penn State University
  6. Member of National Academy of Sciences, Charles Darwin Lifetime Achievement Award from AAPA, Franz Boas Distinguished Achievement Award for HBA
  7. Landmark Studies: Nunoa Peru (bring lots of dif. Anthropologists to study same spot, study stress, high altitude all life, move high —> low altitude), Physiological & MORPHOLOGICAL ADAPTATION to heat, cold, & altitude, Long term research (10 years), Research team-training of students
  8. Landmark Studies: Pacific & Somoa (globalization- how westerners change culture/diet and how affect health), HEALTH TRANSITIONS in migrant & modernizing populations (Environmental & culture change affect biology?), Child growth & development, fertility (women mainly cause limiting factor), demography, genetic variation, nutrition, exercise & work capacity, population ecology, & Health (obesity, diabetes, & cardiovascular disease)
  9. Contribution to Human Population Biology (HPB): Research (More scientific rigor, systematic research design, hypothesis-driven inquiry), Theory (intergroup variation explained with evolutionary theory, Advanced and broadened the understanding of human adaptability, lifespan approach)
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8
Q

Biocultural

A
  1. Human behavior, biology, and culture combined (?)
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9
Q

Population Genetics

A
  1. The genes and genetics in a (different) population (?)
  2. Transformation of Human Population Biology
  3. Late 90s Early 2000s technology got better
  4. ABO system
  5. Rh system
  6. Sickle cell & malaria (s.c. Not only blood disorder connected to malaria)
  7. Types of molecular genetic studies: mtDNA, Y chromosome, nDNA (coding and non-coding)
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10
Q

International Biological Program (IBP)

A
  1. Research program: International, multidisciplinary, & comparative
  2. Human Adaptability Program: Survey sample populations- worldwide, Regional studies - environmental contrast (how dif environments specifically affect cultures), Selected populations, World Health Organization activities
  3. Positive Consequences: Standardization in methods, data collection
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11
Q

Human Adaptability Program

A
  1. Human Adaptability Program: Survey sample populations- worldwide, Regional studies - environmental contrast (how dif environments specifically affect cultures), Selected populations, World Health Organization activities
  2. Seminal large-scale research projects
  3. Interaction between humans and environment
  4. Circumpolar populations
  5. Population genetics: American Indians (bad relationship because took research and didn’t give back benefits, hard to work with because of this stigma they will get screwed over)
  6. High altitudes: Andean natives
  7. Bio social adaptations: Migrant & urban populations (why move? Jobs, Jobs, Jobs - P. Linny)
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12
Q

Man and the Biosphere

A
  1. (Anthropologists mainly white)
  2. Human behavior & culture In Context to the Environment
  3. Inclusion of Social Scientists & Stakeholders
  4. 2 Research Projects: Multinational Andean Genetic & Health Project and Samoan Migrant Project (In past, Western people go to natives and do research we want but now try to see what they need, they have a voice, training in natives doing the research themselves)
  5. MAB Related Research Projects: South Turkana Ecosystem Project and Ituri Forest Project (In Turkana, late teens early 20s get period, shorter pregnant ability window, menstration in US 12, Low body fat, tall, lean, less food, later period, more fiber later period) (move every 3-4 days (Hunter/Gatheres))
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13
Q

Demography

A
  1. Training
  2. Compatible with Evolutionary & Ecological approaches
  3. Differential fertility, selection, & evolution (why people other cultures have so many children)
  4. Baker’s Asaptation studies (reduce fertility in other countries reduce maternal and baby mortality rates)
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14
Q

Ecology of Reproduction

A
  1. Role of the environment
  2. Physical Activity: exercise, metabolism, gymnasts, energy towards staying alive instead of getting period to eventually have kids
  3. Nutrition: less food, less chance of reproduction systems
  4. Seasonality
  5. Energetic: exercise, metabolism, gymnasts, energy towards staying alive instead of getting period to eventually have kids
  6. Breastfeeding: + 200-250 calories only when pregnant, +500-700 calories when breastfeeding
  7. Ovarian function: hormones, eggs you have
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15
Q

Psychosocial Stress

A
  1. Homework building up, work, personal things, etc
  2. Cortisol build up cause no fat burning; no sleep from stress cause want to eat sweets
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16
Q

Life History Approach

A
  1. Adaptability: think of traits we have that no other mammals have, pelvis shape, don’t have litters
  2. Environmental influences
  3. Lifespan: prenatal period, childhood, adolescence, adulthood, senescence
  4. Trade Offs: Illness & risk factors
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17
Q

Biology of Poverty

A
  1. Economic disparity: Health disparities, Growth & development, Psychosocial stress, Fertility, Mortality, & Morbidity (Kids in poverty see same as police but their mental health is disregarded; leaves a strain on them)
  2. Political-Economic approach: Marxist
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18
Q

Political Economic Approach

A

Marxist

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19
Q

Epidemiology of Modernization

A
  1. Acculturation: Culture contact, Culture change
  2. Changes to/in: Lifestyle, diet, activity patterns, values, beliefs, Environment (tropical infectious diseases we don’t know about)
  3. Chronic & infectious diseases: our generation going to see more emerging diseases due to climate change
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20
Q

Evolutionary Medicine

A
  1. Evolutionary theory & Natural Selection
  2. Infectious disease: origin, virulence, arms race
  3. Chronic disease: allergy, cancer
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21
Q

Anthropology of Aging

A
  1. Illnesses, disorders, & disease of the aged: cause & consequence, Alzheimer’s, Heart disease, Cancer, Osteoporosis, Osteoarthritis, (leading cause of death: falling)
  2. Senescence = aging
  3. Delivery of health care
  4. Patterns of change
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22
Q

Eukaryotic Cells

A
  1. Animal Cell
  2. No chloroplast, has cell wall
  3. Organelles: Nucleus (DNA and RNA), Mitochrondria, Ribosome
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23
Q

Somatic Cells

A
  1. Body cells cut on hand, somatic cells heal it
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24
Q

Gametes

A
  1. Reproductive cells (sperm and eggs)
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25
Q

Zygote

A
  1. Becomes embryo
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26
Q

DNA

A
  1. Structure: Nucleotide (5 carbon sugar(dioxide ribose), Phosphate unit, nitrogen base (Base-pair rule (T-A, C-G)))
  2. Basic structure need these for DNA, don’t have it not DNA
  3. Double bond - A-T
  4. Triple bond - G-C (3/4 complementary strands)
  5. Double stranded, structured into chromosomes, deoxyribose, uses thymine, is read by polymerases, stores genetic information, can self replicate, can last for a long time, is read 3’—>5’ (both D/RNA Uses A,C,G and has sugar + phosphate backbone)
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27
Q

Nucleotide

A
  1. 5 carbon sugar(dioxide ribose), Phosphate unit, nitrogen base (Base-pair rule (T-A, C-G)
  2. Basic structure need these for DNA, don’t have it not DNA
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28
Q

Adenine

A
  1. Bonds with Thymine
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29
Q

Thymine

A
  1. Bonds with Adedine
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30
Q

Cytosine

A
  1. Bonds for Guanine
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31
Q

Guanine

A
  1. Bonds with Cytosine
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32
Q

Codon

A
  1. Triplets
  2. 3 Nucleotides
  3. Amino Acids
  4. Example: TAC CTC GGA ATT (DNA)
  5. AUG GAG CCU UAA (mRNA)
  6. Certain codons code for different proteins
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33
Q

DNA Triplet

A
  1. 3 nucleotides
  2. Amino Acids
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34
Q

RNA

A
  1. Single stranded
  2. Nitrogen base
  3. Nucleus
  4. Genes —> Amino acid —> proteins —> traits (—> = code for)
  5. Ribose is the sugar
  6. DNA stays in nucleus
  7. RNA leaves the nucleus, go to ribose, and make amino acids for cell
  8. Uracil replaces Thymine for mRNA
  9. Single stranded, ribose, modified 5’ cap and 3’ poly-A tails, uses uracil, stores information about protein structure, read by ribosomes, can have multiple structures (mRNA, rRNA, tRNA), does not usually last for a long time, is formed in 5’ —> 3’
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35
Q

DNA Replication

A
  1. Why do we care about DNA & RNA? (Part of it)
  2. First stage of mitosis & meiosis
  3. Daughter cells
  4. Purpose
  5. Process: know unzipping, free floating N bases in nucleus, hook up with complementary base pair and connect and continue until strand is replicated
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36
Q

Protein Synthesis

A
  1. U not T
  2. Code for this (why do we care about DNA & RNA (part of it))
  3. Amino Acids
  4. Role
  5. See Slide 12
  6. Redundancy
  7. Start codon, AUG = Methionine (can’t do protein synthesis without it)
  8. 3 stop codons: UAA, UAG, UGA (because of mutation, can accidentally get stop codon or change in amino acid to change polypeptide chain)
  9. Process of Protein Synthesis: 2 stages 1. Nucleus — TRANSCRIPTION (DNA unzipped, formation of pre-mRNA (when thymine leaves and uracil appears), leaves nucleus) 2. Ribosome — TRANSLATION (read and translate mRNA) (tRNA locks with mRNA (lock and key) and makes polypeptide chain), Codons vs Anticodons, Transfer RNA (tRNA) (brings/attaches to anticodon) (amino acid attaches), Amino acid —> Polypeptide chain —> Protein,
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37
Q

Amino Acids

A
  1. Polypeptide chain —> Protein
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38
Q

Transcription

A
  1. Nucleus (DNA unzipped, Formation of pre-mRNA (when thymine leaves and uracil appears), leaves nucleus)
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39
Q

Messenger RNA

A
  1. mRNA
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40
Q

Translation

A
  1. Ribosome (read mRNA)
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41
Q

Transfer RNA

A
  1. tRNA
  2. Locks with mRNA (lock and key) and makes polypeptide chain
  3. Brings/attaches to anticodons
  4. Amino acid attaches
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42
Q

Polypeptide Chain

A
  1. Code from amino acids which code from genes
  2. Code for proteins which code for traits
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43
Q

Protein

A
  1. Code from polypeptide chains which code from amino acids which code from genes
  2. Code for traits
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44
Q

Gene

A
  1. DNA
  2. Definition: a unit of heredity which is transferred from a parent to offspring and is held to determine some characteristic of the offspring
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45
Q

Exon

A
  1. Coding region, gets transcribed to get proteins
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46
Q

Intron

A
  1. Non-coding region
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47
Q

Point Mutation

A
  1. AKA Substitutions
  2. AATGCCTAAGTTTGCCCAG —> AATGCCTAAcTTTGCCCAG
  3. One codon letter changes for whatever reason: codon + anticodon look different, change amino acids, mess up outcome
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48
Q

Insertion Mutation

A
  1. AATGCCTAAGTTTGCCCAG —> AATGCCTAAGatacTTTGCCCAG
  2. Genetic material added: changes length of chain, be really big deal cause Frameshift, more amino acids
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49
Q

Deletion Mutation

A
  1. AATGCCTAAGTTTGCCCAG—> AATTAAGTTTGCCCAG
  2. Genetic material deleted: changes length of chain, be really big deal cause Frameshift, less amino acids
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50
Q

Frameshift

A
  1. Insertion and Deletion Mutations
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51
Q

Chromatin

A
  1. the material of which the chromosomes of organisms other than bacteria are composed (protein, RNA, DNA)
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52
Q

Chromosomes

A
  1. 46 chromosomes total and 23 pairs of homologous chromosomes
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53
Q

Homologous Chromosomes

A
  1. The 23 pairs are this
  2. 1/2 pair mom
  3. 1/2 pair dad
  4. 1/23 sex chromosomes
  5. 22/23 autosomal chromosomes
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54
Q

Locus/Loci

A
  1. Location of gene/allele on chromosomes
  2. Various alleles are located at specific loci
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55
Q

Allele

A
  1. Variants of a gene
  2. Alleles of a gene at a gene locus are either dominant or recessive
  3. Allelic genes code for same gene and get different results
  4. Pair either homo or hetero
  5. On homologous chromosomes across vertically from each other
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56
Q

Homozygous

A
  1. Terms of alleles with same on each pair (TT,tt)
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57
Q

Heterozygous

A
  1. Terms of alleles with different on each side of pair (Tt)
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58
Q

Karyotype

A
  1. Human Karyotype: 22 autosomal pairs, 1 Sex pair, 46 in total
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59
Q

Autosomes

A
  1. The 22 chromosomes that aren’t a sex chromosome
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60
Q

Sex Chromosomes

A
  1. Code for sex
  2. Different sizes if X, default is female, if only X can be female human, only Y doesn’t work,
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61
Q

Mitosis

A
  1. Somatic Cells***
  2. Process: Interphase (have cell), Prophase (develop spindles), Prometaphase ( chromosomes start to line up), Metaphase (equatorial plate), Anaphase (start to split, now chromatids), Telophase (and Cytokinesis, now 2 daughter cells)
  3. Result: 2 exact daughter cells
  4. End goal is the 2 identical daughter cells***
  5. Before cell splits into 2, DNA replication has to happen
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62
Q

Meiosis

A
  1. Dif of mitosis/meiosis 1: chromosomes crossing over, exchanging genetic material in meiosis
  2. Goal = produce gametes (sex cells)
  3. 2 Stages: Meiosis 1 and Meiosis 2
  4. Stages look different based on sex chromosome (xx/xy)
  5. Remember: gametes unite to form a zygote-diploid (Silbings get dif mixture of genetic material, why look different)
  6. Haploid= half genetic material, sperm or egg before they meet to become diploid
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63
Q

Recombination

A
  1. AKA Crossing over
  2. Section of homologous pairs are interchanged during meiosis
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64
Q

Crossing Over

A
  1. Recombination
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65
Q

Oogenesis

A
  1. Females (born with all eggs will have, get at 6 month gestation, you as egg in grandma, her stress levels affect mom’s eggs which affect you)
  2. 1st division - Before Birth
  3. 2nd division - Puberty, Cyclical (not always 1 egg drops in period)
  4. 1 cell = 1 ovum, 3 polar bodies: unequal division
  5. Oogenesis (egg formation) of 4 daughter cells, only 1 viable for zygote formation, all have same genetic material, 1 just has more nutrients, different sizes)
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66
Q

Spermatogenesis

A
  1. Male
  2. Puberty/Constant
  3. 1 cell produces 4 sperm
  4. Equal division: same amount genetic material, all viable
  5. Andropause-testostrone/sperm production stops
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67
Q

Chromosomal Aneuploidy

A
  1. Non-Disjunction: Chromosomes fail to SEPARATE PROPERLY (Down syndrome not a mutation it’s this, Older mothers more likely to have it)
  2. Autosomes & Sex chromosomes
  3. Can have not enough chromosomes after split or too many
68
Q

Non-disjunction

A
  1. Can occur in mitosis or meiosis
  2. Meiosis: sex chromosomes or Autosomes, stage 1 or 2, gametes with too many or not enough chromosomes, case by case situations
69
Q

Trisomy 21

A
  1. Down’s Syndrome
  2. 3 copies of chromosome 21
  3. 1/1000 per live birth
    Incidence increases with mother’s age (Geriatric mid 30’s, still can happen in younger moms)
70
Q

Trisomy 13

A
  1. Patau syndrome
  2. Fairly common
  3. 1/16,000 births
  4. Most embryos don’t go full term or stillborn
  5. Problem with mortality rates
71
Q

Trisomy 18

A
  1. Edwards syndrome
  2. Fairly common
  3. 1/5000 births
  4. Problem with mortality rates
  5. Embryos that survive, typically female
  6. Can have 1/2 and not get symptoms, mosaic another kind usually
72
Q

Kleinfelter Syndrome

A
  1. XXY
  2. 1/1000 male births
  3. Can be genetically tested in womb or heel prick test
  4. Male with some female secondary sexual characteristics: Fat deposits where females gain weight like lower belly and butt
  5. Lower testosterone
  6. Mental impairment
  7. Infertile (very very low sperm count)
  8. Difference in sexual development (in literature called “disorders”
73
Q

Turner Syndrome

A
  1. Non-disjunction
  2. XO (sperm or ovum not carrying x or y) (default setting for humans is female so can survive with just 1 X)
  3. 1/2000 females births
  4. Female
  5. Sterile
  6. Short (could be clue to pediatricians something’s up and more genetic testing needed), broad chests, webbed necks
  7. Incomplete development of 2nd sexual characteristics (after puberty)
74
Q

Trisomy X

A
  1. Trisomy X - XXX - Triple X - Super females
  2. 1/1000 female births
  3. Physically normal (so no pics to prove it)
  4. Clinical problems (lots of variability, see in late adolescence when trying to get pregnant, can have painful sex, shorter canal)
  5. Increased risk in sterility (can still have kids)
  6. Cognitive impairment (mental/learning disabilities harder to diagnose in females)
  7. More that 3Xs, cognitive impairment is severe
  8. Formed by random genetic error
75
Q

XXY Syndrome

A
  1. More testosterone
  2. 1/1000 male births
  3. Males
  4. Fertile
  5. Above average height & muscle mass
  6. Increased risk of learning disabilities (dyslexia)
  7. Controversy: aggressive behavior (Due to studies in 50s/60s testing prisoners who act out more, bad test because small sample size and only guys in max security prisons, life history no considered, before ethics in testing, weren’t recognizing mental disorders at the time, interesting cause when published people saw it wasn’t good research)
76
Q

Chromosomal Deletion

A
  1. Part of chromosome gets deleted
77
Q

Cri-Du-Chat Syndrome

A
  1. Deletion
  2. Portion of chromosome 5: affects 80% of sperm, Unequal recombination (if survives lacks great portion of chromosome 5)
  3. 1/20k-1/50k births
  4. Symptoms: High pitched cry-cat, Low birth weights (under 5lbs, greater risk of mortality) & slow growth, Slow or incomplete motor skills, Microcephaly (small heads, smaller brains), Intellectual disability (Think gene CTNND2 responsible)
78
Q

Chromosomal Duplication

A
  1. Part of a chromosome is duplicated: Extra genetic material, Extra instructions, Errors in development
  2. May have a “Positioning Effect”
79
Q

Pallister Killian Syndrome

A
  1. Looks like Trisomy 21
  2. Extra chromosome 12 material
  3. Symptoms: Severe intellectual disability, Poor muscle tone (all over body), Course facial feature, Seizures, Poor feeding, Heart defects, Cataracts (usually old people, white film over eyes)/Hearing loss, Shortened lifespan (40s)
80
Q

Chromosomal Translocation

A
  1. Chromosomal rearrangements: A portion of a chromosome is attached to a non-homologous chromosome (Ex. Portion of 5 going to 12)
  2. Telomere: Ends of normal chromosomes, Prevent attachment of chromosomal DNA to chromosome ends
  3. Some agents cause chromosome to break: Broken ends lack telomeres, DNA repair enzymes may join them together
  4. 2 Types: Balanced and Unbalanced
  5. Balanced: Usually no phenotypic consequences, Amount of genetic material is normal, “Position effects”, Chemical pregnancy (before 4 weeks miscarry, may not ever know and think a period)
  6. Greater risk of gametes with unbalanced combinations of chromosomes
  7. Unbalanced: Generally associated with phenotypic abnormalities, Can be lethal
81
Q

Familial Down Syndrome

A
  1. Survivable translocation (even though unbalanced)
  2. Unbalanced translocation: Majority of chromosome 21 attached to chromosome 14, 3 copies of most of the genes on chromosome 21, Characteristics similar to the more common form of Down Syndrome (Trisomy 21) (usually can’t tell difference)
82
Q

Chromosomal Inversion

A
  1. A segment has been flipped to the opposite orientation: Total amount of genetic material is unchanged (not a lot of errors/physical or mental consequences), Genes are generally transcribed correctly, Generally no phenotypic consequences, 2 types
  2. Surprisingly common: 2% human population have inversions - light microscope
  3. Generally phenotypically normal
  4. Some produce offspring with genetic abnormalities
83
Q

Evolution

A
  1. General: Change in biology over time
  2. Precise: Allele frequencies
84
Q

Microevolution

A
  1. Small gradual changes at genetic level (changes in a population)
  2. DNA sequences
85
Q

Macroevolution

A
  1. Large changes speciation event (changes at a species level): New species, extinction of species
  2. Ex: fossil evidence (paleo), comparative anatomy (Neanderthals: shorter, cold environment, other species tall cause African)
86
Q

Inheritance of Acquired Traits

A
  1. Jean-Baptiste Lamarck
  2. 1st to propose a system to explain evolutionary change
  3. Will directed: saw need and made a change to adapt to environment
  4. Sally 3 legged dog, had puppies, according to his ideas (which don’t work) pups should have 3 legs but we know they have 4
87
Q

Descent with Modification

A
  1. Modification as time goes on (?)
88
Q

Unit of Natural Selection

A
  1. Always individual
  2. Either have traits or don’t for situations
89
Q

Unit of Evolution

A
  1. Always populations
  2. Over time
90
Q

Reproductive Success

A
  1. Traits have variations; dif variation have dif levels of success (Ex This case darker mice have higher success rates cause camouflage, variation lower in natural selection over time
91
Q

Fitness

A
  1. Evolutionary Fitness
  2. Measure of the RELATIVE reproductive success of individuals
  3. Individual’s genetic contribution to future generations
92
Q

Adaptation

A
  1. Result of natural selection
  2. We adapt to environment
93
Q

Natural Selection

A

The Mechanism
1. Natural Selection: Adaptation (shift in traits in a specific environment, variability in the population, traits already exist just more frequent in population), Fitness (evolutionary, get genes into next/later generations)
2. 3 Ideas: Competiton (over food/ mates/ resources), Variation is present in population (variation there, environment “releases” it) ( Ex. Industrial Revolution and moth), Variations are heritable (able to pass on from one generation to next)
3. Process of Natural Selection: Many offspring (variation too, right variation for environment is present), Struggle/Competition, Favorable traits have advantage = reproductive advantage (environment is the selective agent always(sickle cell anemia)), Increase in traits which have evolutionary fitness
4. Differential reproductive success

94
Q

Modern Synthesis

A
  1. Darwin + genetics in modern human physical variation (?)
  2. Combine Darwin’s idea of natural selection with genetics to explain modern human physical variation
95
Q

Genotype

A
  1. Are the alleles inherited that govern a particular trait
96
Q

Phenotype

A
  1. Are the observable or detectable physical characteristics of an organism
  2. Multiple genes can influence
  3. Some traits phenotype can change (skin tan/burn)
  4. See phenotypes
97
Q

Gregor Mendel

A
  1. Credited for genetics
  2. Father of modern genetics
  3. Experiments, research, & publications
  4. Rules of Heredity (for Mendelian and simple traits ONLY) (not complex)
  5. Punnet Square
  6. Pea pod experiment
98
Q

Law of Segregation

A
  1. Units segregate randomly from parent to offspring
  2. Today - Meiosis
99
Q

Dominant

A
  1. Both alleles are the dominant alleles
100
Q

Recessive

A
  1. Both alleles are the recessive allele
101
Q

Discrete Traits

A
  1. A Mendelian trait
  2. Have it or don’t (No in between)
  3. Controlled by one genetic locus
  4. < 4000 human traits (considered Mendalian, each year goes down)
102
Q

Mendelian Trait

A
  1. Purely genetic
  2. Co-dominant
  3. ABO Blood Group
103
Q

ABO Blood Group

A
  1. O recessive to A and B (not looking at + or -‘s)
  2. O only shows if OO
104
Q

Simple Traits

A
  1. Can be influenced by culture or environment (Ex. Sickle Cell (normal rbc HbA/HbA sickle rbc HbS/HbS carrier HbA/HbS)
  2. Mostly genetic
  3. 2 Alleles, 3 Genotypes, 3 Phenotypes
105
Q

Sickle Cell Anemia

A
  1. Sickle Cell (normal rbc HbA/HbA sickle rbc HbS/HbS carrier HbA/HbS
  2. Autosomal Recessive
106
Q

Autosomal Recessive Trait

A
  1. Not sex, have 1 on each chromosome to inherit trait (Ex. Tay Sachs, PKU, Albinism)
  2. Rules: Need both recessive alleles to express trait, Heterozygotes are carriers, Males & females are affected equally
107
Q

Albinism

A
  1. In indigenous groups connected to supernatural powers
  2. Oculocutaneous albinism (OCA): Autosomal recessive, eye sight and height negatively impacted
  3. Ocular albinism (OA): X-linked recessive (2 X chromosomes both need to be affected)
    3.5. Hemizygous: XY need 1 recessive allele to have albinism
108
Q

PKU

A
  1. Phenylketonuria
  2. A mutation in the phenylalaine hydroxylase gene (amino acid het through diet, have PKU can’t break it down, junk material builds up): Enzyme converts phenylalanine to trysine, 100% genetic
  3. If enzyme is defective —> build up of phenylpyruvic acid causing PKU
  4. Phenylpyriuvic acid becomes toxic: Accumuilates in nervous system, Prevents synaptic communication, Intellectual disability (very challenging to overcome), Nerve & joint damage, Short stature, Light skin
  5. PHE is withheld from diet: PKU will not develop, Regardless of recessive genotype, PKU is 100% environmentally influenced
  6. Metabolism of PHE is complex: PP = 100% active enzyme, Pp = normal phenotype but 65-75% enzyme activity, pp = 0% active enzyme
  7. Almost all newborns tested
  8. Cost/Benefits Ratio: low survivability
  9. Treatment: Little PHE in diet in childhood, Adulthood diet can be discontinued
109
Q

Tay-Sachs

A
  1. Autosomal recessive
  2. Infant, juvenile, adult (get kid 2-3 years old very very goos)
  3. Neurodegenerative disease (no control over anything, not immediately startled cause no neuro reaction, start symptoms 6 weeks old)
  4. Some individuals are at more risk than others (ashkenzie jews cause stay in religion, andogomy)
  5. Carriers recommended not to have kids
  6. Late onset version also loss of motor function
  7. Infant kind most common
110
Q

Autosomal Dominant Trait

A
  1. Rules: One parent shows the trait, Males & females affected equally
  2. Probability of inheriting: 50% if 1 parent hetero, 100% is 1 parent homo
111
Q

Achondroplasia

A
  1. Dwarfism due to growth defects
  2. Auto Dom (Aa)
  3. Homozygote don’t survive (AA)
  4. 4’1-4’4 in height
  5. Limbs disproportionately short
  6. Mutations in FGFR3 on Chromosome 4: Maintenance of bone & brain tissue. Limits ossification, Problem converting cartilage into bone, particularly long bones
  7. Inherited vs Random Chance
112
Q

Familial Hypercholesterolemia

A
  1. Often Underdiagnosed Condition
  2. Chromosome 19
  3. Unable to remove low density lipoprotein (LDL or “bad”) cholesterol
  4. Cardiovascular disease
  5. Fatty skin deposits, cholesterol deposits, angina, fat ring in eye,
  6. Heart attacks in 30s or younger
  7. Homo dom worst, hetero worse, homo rec best
  8. 220 mg/dL Adult
  9. 170 mg/dL Children
  10. Dietary & Lifestyle changes
  11. Medication
  12. Blood filtration (when diet/medication not lowering it)
  13. Severity & survivorship influenced by genotype
113
Q

Sex-Linked Trait

A

See other

114
Q

Hairy Ears

A

Y-linked

115
Q

Hemophilia

A

Blood clotting disorder, see other

116
Q

Red-Green Color Blindness

A

X-linked

117
Q

Pleiotropy

A
  1. A single gene may have more than one effect
  2. Influences more than one phenotypic expression
  3. Very common
118
Q

Hemizygous

A
119
Q

Complex Traits

A
  1. Multi locus (polygenic traits)
  2. AKA Continuous
  3. Exhibit continuous distribution displayed by a bell-shaped curve
  4. Range of phenotypes = plasticity
  5. Multi factorial (skin color)
  6. Inherited as genetic potential that can be modified (ex stature, big affected by stress***)
  7. Not all complex traits are influenced by the environment and/or culture (number of bertebrae, positioning of eyes, 4-chambered heart)
120
Q

Continuous Traits

A
  1. AKA Complex traits
121
Q

Polygenic Traits

A
  1. Multi locus traits
122
Q

Plasticity

A
  1. Alterations in the phenotype over the course of the lifetime
  2. Range of variation
  3. Suggested to be an adaptation
123
Q

Selective Pressures

A

IDK

124
Q

Heritability

A
  1. Measure of genetic influence on phenotypic variation: Additive/Cumulative, Only applies to complex traits, Environmentally Specific
  2. Examples: # of eggs laid per week by a chicken, weight of chicken/turkey brease, marbling of steak, birth weight (to some degree)
  3. Heritability Index (H^2): MEasure of genetic contribution to variability in phenotypic trait, As the environment changes so does H^2) (H^2 near 1 variance is primarily due to genetics) ( H^2 near 0 variance is primarily due to environmental conditions) (h^2 variance is due to additive allelic effects)
  4. Examples: Fingertip ridge count (90%), Faternal (Dizygotic) twins (50%), Female fertility (10-20%), Birthweight (27%)
125
Q

Concordance

A
  1. Study monozygotic twins to estimate the role of the environment in phenotypic variation
  2. Degree to which monozygotic twins show the same phenotype: low likely not genetic, equal likely shared environmental effects
  3. Type 1 Diabetes: Mono (40%)/ Di (20%)
  4. Type 2: Mono (90%)/ Di (45%)
126
Q

Penetrance

A
  1. Frequency of a genotype expressed in a phenotype
  2. Reduced penetrance (age of onset)
  3. Non-penetrance (carry gene but no expression) (Prostate cancer, dont have prostate but still can carry gene for it to pass to son)
  4. Example: Red-green color blindness (x-linked recessive trait, more frequent in males than females
127
Q

Population

A
  1. All INTERBREEDING individuals of a species in a local area (not children or elderly)
128
Q

Forces of Evolution

A
  1. Mutation - DNA
  2. Recombination - chromosomes & sexual reproduction
  3. Natural selection - individual organism
  4. Genetic drift and gene flow - population
  5. Non random mating - lineages
129
Q

Nonsense Mutation

A
  1. Code for a stop codon
  2. Truncates the protein
130
Q

Missense Mutation

A
  1. Code for different Amino acid
  2. Ex. Sickle Cell Hb
131
Q

Silent Mutation

A
  1. Code for same Amino acid
132
Q

Gene Flow

A
  1. Migration or Admixture
  2. Movement of alleles into and/or out of a population (occurs in a species)
  3. Prevents (divergence)
  4. Introduces new genetic variation
  5. Exogamy between population
133
Q

Genetic Drift

A
  1. Chance fluctuation in allele frequency: From one generation to next, Promoted by small pppulation size were inbreeding or endogamy occurs, Traits fixed or lost
  2. Increase variation between populations
  3. Decrease variation within populations
  4. Ex Bottlenecks and Founder Effect
134
Q

Bottlenecks

A
  1. Small populations: <10 k, Popuilation is significantly reduced for at least one generation
  2. Natural disaster happens
  3. Loss of genetic variability: Current & succeeding generations, Greater consequence for very small populations
135
Q

Founder Effect

A
  1. New population established by small number of individuals
  2. Carry small fraction of original population genetic variation
  3. New pop is: Distinctivelty different from parent pop (over time), Genetically and phenotypically
136
Q

Non-random Mating

A
  1. Preferential mating/Assortative mating: positive, negative, inbreeding (kind of positive)
  2. Channel genotypes: promotes Homozygotisity
  3. Deliberate outcrossing: promotes heterozygotisity
137
Q

Positive Assortative Mating

A
  1. Geographically or socially isolated
    Ex. Inbreeding
    Opp of random mating
    Choose white - white
  2. Mating and reproducing with others that share phenotypic characteristics
138
Q

Inbreeding

A
  1. Consanguineous mating = blood relatives (positive assortative)
  2. Little negative consequences unless: long term, serious mutation present
  3. Blue people methemoglobinemia
139
Q

Negative Assortative Mating

A
  1. Choose partners opposite traits to own
  2. Mating & reproducing with others who dont share phenotypic characteristics
140
Q

Sexual Selection

A
  1. Non-random mating
  2. Charles Darwin (wrong but said cause for racial variation)
  3. Competition for mates (results in differential mating and reproduction)
  4. Females choose male mated based on phenotypic traits of males (signal for genetic viability)
  5. Humans: females always have available mates, limit tours is biology and environment, males access to females, mate for cultural and social purposes
141
Q

Artificial Selection

A
  1. Does not necessarily: increase ability to survive in environment, increase relative fitness
  2. Animals and plants
  3. Increase in trait that benefits humans or other animals
142
Q

NS: Directional Selection

A
  1. selection against a particular trait leading to increase alternative traits
  2. Maxi fitness in moving in some direction
  3. Mean or allele frequency is changing (Darwinian gradualism)
  4. Common in artificial breeding
  5. Selection for larger brain (Ex0
143
Q

NS: Stabilizing Selection

A
  1. More common than others
  2. Mean of a quantitative trait is being maintained
  3. The extremes at ends selected against (bell shaped curve)
  4. Ex sickle cell in malarial environment, infant head size and birth weight
144
Q

NS: Disruptive Selection

A
  1. Selection against mean: selection against hetero, favors extremes, for homo
  2. May give rise to speciation
  3. Monarch and mimic example
145
Q

Population Genetics

A
  1. The quantitative study of how gene distribution pattern against time and space
  2. Questions pop gen allows us to ask very specific ?’s
    3/ Evolutionary forces (want know why changing)
    4/ Probability theory (HWE)
146
Q

Gene Pool

A
  1. Total complement of genes shared by breeding population
147
Q

Breeding Population

A

All individuals within population who have opp to mate and reproduce

148
Q

Deme

A

Breeding isolate: isolated breeding pop, Geograpohically or socially isolate, most evolution in demes, Ex Amish

149
Q

Breeding Isolate

A

Deme

150
Q

Exogamy

A

Bowie and Iman
Breeding outside group

151
Q

Endogamy

A

Beckhams
Breeding writhing the group

152
Q

Allele Frequencies

A

Will not change from generation to generation

153
Q

Genotype Frequencies

A

Will remain same

154
Q

Phenotype Frequencies

A
155
Q

Hardy-Weinberg Equilibrium

A
156
Q

What is the goal of human population biology?

A

Understand the extent of & basis for biobehavioral variation at the pop community, family, sex, age, and individual levels
Predict limits of our adaptavility

157
Q

What type of research interests should guide human population biologists in currently and in the future?

A
158
Q

Do you understand mitosis and meiosis well enough to explain them?

A
159
Q

Do you understand DNA replication and protein synthesis well enough to explain them?

A
160
Q

What conditions must be met for a population to be in Hardy-Weinberg equilibrium? Why or why not do we find them in breeding populations? How do they affect equilibrium?

A

Conditions: Infinitely large pop, no genetic drift, no sexual selection, random mating, no new mutation,

161
Q

Can you calculate allele, genotype, and phenotype frequencies? Can you tell whether a population is in Harry-Weinberg equilibrium?

A
162
Q

How do various forces influence population level genetics?

A
163
Q

How is artificial selection different from natural selection?
(On test here’s this, is it this or this)
(Lots of story problems)

A
164
Q

What effect do assortative mating patterns have on genotypic frequencies?

A
165
Q

List five concepts essential to Darwin’s theory of evolution

A

Variation, competition, isolation, (different levels of) reproductive success, heritability

166
Q

List three concepts essential to understanding the foundation of natural selection

A

Modern Human Physical Variation (4 decks)

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