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what is behavioral genetics?

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are of psychology that involves use of genetic methodologies to study nature and origins of individual differences in human and animal behavior (evolutionary psychology=studies how evolution shaped common psych. processes)

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Plato on genetics

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"The best men must cohabit with the best women" -The Republic

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Aristotle on genetics

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"and from deformed parents deformed offspring come to be" -History of animals

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Shakespeare on genetics

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"a devil, a born devil, on whose nature nurture can never stick" -The tempest

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Linnaeus contributions to modern genetics

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species--natural theology (cataloguing/classifying organisms)

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Erasmus Darwin contributions to modern genetics

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grandfather of Charles--poetry on evolution

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Jean Lamark contributions to modern genetics

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Inheritance/adaptation--giraffes evolved to have long necks (18th century)

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Lyell contributions to modern genetics

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time and gradualism--rock cycle-imperceptibly slow change (19th century)

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Malthus contributions to modern genetics

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competition and non-random loss--beginning of eugenics (18th and 19th century)

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H.M.S beagle 1831

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observations of tortoises and finch in galapagos islands

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Alfred Wallace

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1858 wrote to Darwin with theory--Origin of Species 1859

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Sir Francis Galton

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founder of behavioral genetics, differential psychology and biometry--first published BG study 1869 (rate of eminence)

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Sir Francis Galton nature nurture debate

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Nature prevails over nurture when environments are controlled

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Henry Herbert Goddard

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sort of founder of and believer in eugenics

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Well known names who supported eugenics

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Teddy Roosevelt, Margaret Sanger

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3 ways eugenics influenced public policy in the early 20th century

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1. immigration restriction act 1924 2. sterilization laws 3. upheld in court (carrie and emma buck-"three generations of imbeciles is enough")

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John B Watson eugenics view

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nurture is everything (1924)

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Richard Dawkins eugenics view

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it is unethical to bring a down's baby into the world

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Gregor Mendel 1st law

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Law of segregation--sperm and egg each contribute an allele

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Mendel 2nd law

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law of independent assortment--different traits have equal opportunity of occurring together

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Huntington disease is ___________

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autosomal dominant

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PKU is a _____________ disease

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autosomal recessive

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Lesch-Nyhan is a ____________ disease

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X-linked recessive

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types of inherited influence

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monogenic (single-gene, mendelian), multi-genic (galtonian, multifactorial, polygenic, oligogenic--disorders with complex genetics), mitochondrial

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short arm of a chromosome

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p

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long arm of a chromosom

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q

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alternative forms of a locus are termed

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alleles

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human genome consists of ____ pairs of _______ chromosomes

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23, homologous (first 22 autosomes last pair sex)

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diploid chromosome

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one inherited from mom and one from dad

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haploid chromosomes

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only one of each pair transmitted to offspring

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mitosis definition

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in dividing cells the process by which genetic material is duplicated to produce two identical daughter cells (diploid-diploid)

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chromosomes usually visualized during which phase mitosis?

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metaphase

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mosaicism definition + how it happens

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def: existence of multiple genetically distinct cell populations. Happens from nondisjunction of sister chromatids (mosaic down syndrome--extra chromosome on chrom 47/46)

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Meiosis definition

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production of gametes--genetic material is reduced by half (diploid-haploid)

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Aneuploidy def

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error in meiosis--nondisjunction of homologous chromosomes (downs-chrom 21 extra)

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Recombination def

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exchange of genetic material

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Anticipation def (genetics)

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an inherited disorder whose age of onset gets earlier, or prevalence or severity increases across successive generations (HD)

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HD molecular bio cause

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trinucleotide repeat expansion

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Variable expressivity

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same genotype different phenotype--choreic/rigid forms HD

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genetic heterogeneity

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different genotypes same phenotype

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gene function

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primary function far removed from behavior

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pleiotropy

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genes have multiple phenotypic effects

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PKU def

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deficient enzyme that converts phenylalanine to tyrosine

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Non-coding DNA types

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pseudogenes (evolutionary relics), repetitive DNA (interspersed, minisatellite repeats 10-30bps, microsatellite repeats <10 bps), regulatory regions, intragenic

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polymorphism

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allele w/ fequency less than or equal to 1%

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mutation (rare and low freq.)

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allele w/ frequency greater than 1%

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genetic variants

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genetic differences among individuals

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CNVs

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copy number variants--DNA where individuals carry other than the normal 2 copies

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GWAS arrays

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survey 500,000 SNPs in a large array to effectively skim the genome and identify disease causing loci BUT can't look at SV's

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Whole genome sequencing

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sequences all 3 billion bases and can see SV's as well as SNP's BUT expensive

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Shotgun sequence reads

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<25-100 bps must be aligned to be informative

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transitions account for _______ variants

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most

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transversions account for ________ variants

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minority of

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Haplotype

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set of DNA variations that tend to be inherited together

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narrow sense heritability

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proportion of phenotypic variance attributable to additive effects

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broad sense heritability

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proportion of phenotypic variance attributable to all genetic effects

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passive GxE correlation

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parents who transmit genes that promote development of a specific trait are likely to also create a rearing environment that fosters the development of that trait (Smoking)

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reactive gxe correlation

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our experiences are in part a function of the reactions our behaviors elicit from others, and to the extent our behavior is genetically influenced, this induces gxe correlation (cholic baby)

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active gxe correlation

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abilities/skills genetically influenced--individuals will seek out different environments because of their genes

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MZ twins are not like the rest of population (4 ways)

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infant mortality, cerebral palsy/neurodevelopmental delays, left-handedness, learning disorders

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MZ twins are like the rest of the population (3 ways)

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risk for psychopathology, cognitive ability, personality

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MZ twinning 3-5 days post fertilization

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dichorionic and diamnionic

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MZ twinning 5-10 days post fertilization

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single chorion separate amnions

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MZ twinning 10-13 days post fertilization

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monochorionic and monoamnionic

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% dichorionic MZ twins

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1/3

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limitations of adoption research (3)

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feasibility, selective placement, representativeness

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uses of adoption studies

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adopted siblings, quasi intervention, parent-offspring

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positional cloning where do we look?

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non-targeted: entire genome Targeted: chromosomal anomaly, biologically based hypothesis, animal models, positive linkage results, expression studies, results from non-targeted

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linkage analysis advantages

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feasible to implement genome-wide/well developed and understood technology

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linkage analysis disadvantages

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requires family study design, good for variants w/ large effect but low power for common, limited resolution, does not find causal variant

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allelic association/candidate gene studies advantages

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easy to set up, theoretically high power, theoretically high probability of identifying causal variant

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candidate studies disadvantage

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need to know functional polymorphism, concern about false positives due to mismatching cases/controls

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population stratification

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causes false positive in candidate gene studies by creating artificial association that is actually due to different allele frequencies in a population

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winners curse

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another reason candidate gene studies fail; initial significant findings are overestimated

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how can linkage disequilibrium cause false positives in candidate gene studies ?

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they are non-random and population-level associations between non-functional genetic markers and phenotypes

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common disease common variant model

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due to combined effect of multiple genetic variants each of which is common, ancient, and has a small individual effect

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common disease rare variant model

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due to separate effect of multiple genetic variants each of which is rare, recent, and has a moderate to large effect

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human populations differ. This genetic variation is:

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predominantly within rather than between groups

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