bio exam 3 -- new content only

human genetics

study of inherited variation in humans

difficulties in studying humans

few offspring, long gens, human ethics

pedigree

family tree showing inheritance of multiple generations

what can determine pattern of inheritance based on prevalence and distribution of a trait

pedigree

human traits w mendellian inheritance: _____ —> protein —> function

genes

human traits w mendellian inheritance:

genes —> ______—> function

protein

human traits w mendelian inheritance:

genes —> protein —> ____

function

human traits w mendelian inheritance: __________→ non-functional or absent protein → no function

mutated allele

human traits w mendelian inheritance: Mutated allele → __________ → no function

non-functional or absent protein

human traits w mendelian inheritance: Mutated allele → non-functional or absent protein → ______

no function

is a heterozygote a carrier

yes

to have an autosomal recessive disorder, must be

homozygous recessive

parents of somebody with a autosomal recessive disorder are

carriers / heterozyg

autosomes are

non sex chromosomes

is an autosomal trait inherited dependently or independently of sex

independantly

autosomal traits follow

mendellian inheritance patterns

autosomal recessive

two recessive alleles required

autosomal domnant

one dominant allele is enough to show trait

disomy

having 2 of each chromosomes

typical chromo state / number is

disomy

aneuploidy

presence of atypical number of a chromo

trisomy

having 3 of a chromosome; 2n+1

monosomy

lacking 1 member of a pair of chromosomes; 2n-1

monosomies and trisomys are ______ for human life

inviable

deletion

region of chromo is duplicated

inversion

orientation of a region of a chromo is reversed

translocation

segment of a chromo is moved to a diff chromo

if a trait appears in every generation of a pedigree it is probably

autosomal dominant

if a trait skips gens in a pedigree it is

autosomal recessive

the parents of an autosomal recessive are both

carriers / heterozygotes

carriers in a pedigree are

individuals who do not show the trait but have affected offspring

used to predict the probability of inheriting a disorder

pedigree

what is required for expression of an autosomal recessive trait

2 mutated alleles — homo recessive

what is required for expression of an autosomal dominant trait

one mutated allele — heterozyg or homozyg dom

autosomal recessive heterozygotes are

unaffected carriers

autosomal dominant heterozygotes

show the trait

what is more common autosomal recessive or auto dom

auto recess

many autosomal dom traits appear

after reproduction , so allele is passed on reguardless of it is harmful

mendelian inheritance

determined by allele dominance

non-mendelian traits

caused by chromo number or structure changes

most autosomal aneuploidies are

inviable

aueoploidy is

improper chromosome number

autosomal aneuploidy are

lethal

sex chromo aneuploidy are

often viable but infertile

genetic testing is valuable because

eary diagnosis so prevention or symptom management is good

fetal testing

detects disorders before birth

newborn screening detects disorders at

birth

what is this

pedigree

gradualism

observable processes produce small changes accumulate over time

uniformitarianism

geological processes uniform over time so earth is very old

use and disuse theory

body pts used —> larger stronger better at funct , not used = deteriorate

inheritance of acquired traits

traits aquired during lifetime passed down to offspring

overproduction

more offspring born each gen than will survive and reproduce

unequal survival and reproduction

some survive longer and have more offspring and thus competition

adaptations

beneficial traits = greater reprod success

natural selection

beneficial traits (adaptations) à greater reproductive success

Beneficial heritable traits accumulate in populations over generations

Necessarily mathematically true

pops change over time as beneficial traits increse in frecuqncy

descent w mod

evol by natural selection is one

mechanism of evolition

homology

similar due to common ancestory

before darwin, we thought

species were unchanging and earth was young

varous linneaus

gave the binomial nomenclature / sci naming system

pre darwin geology

gradualism — slow observable proccessed so earth is old

james hutton

gradualism — influenced darwin

charles lyell

Refined gradualism into uniformitarianism”
“Geological processes uniform over time”

uniformitarianism

geolog processes are consistant over time so earth is old

lamarack

use and disuse and inheritance of aquired traits

lamarack said evolution occurs at the

individual level

lamarack established

evolution is a natural process

what experiences influenced darwins thinking on evol

Voyage on the Beagle”
“Collected plant and animal specimens, fossils”

whas darwin reluctant to publish his theory

yes

who reached same conclusions as darwin independently and then they collabled and published

wallace

darwin’s first observation

over production — more offspring born each gen than will survive and reproduce

darwins second observation

unequal survival and reproductino

darwins third observation

heritable variation

heritable variation

individuals have variation, offspring tend to resemble parents

darwins fourth observation

non random survival and reproduction

survival and repdocuction are based on

phenotype

better adapted individuals produce -____ offspring

more

we illustrated evolution because of

artificial selection, direct observations, homology, fossil record

evolution

change in allele frequency in populations over generations

phenotypic variation

observable differences between individuals

genetic variation

differences amoung individuals in gene or nucleotide sequence

mutation, recombination, and rapid reproduction are all

sources of genetic variation

population

group of orgs in same species same area same time that fuck

allele

one of two or more forms of a gene

gene pool

all alleles of all genes in a pop at any given time

allele frequency

proportion of a specific allele at a pocus within a populatino

fixed allene

allele frequency of one in a population — the only allele at a locus

genetic equilibrium

no change in allele frequency gen to gen, no evol in pop at equilib

who developed the idea of geneetic equlibrium

hardy weinberg

is hardy weinbery equilib common in nature

no

in hardy weins the p is

frequency of dominant allele in a pop

in hardy wein s q is

frequency of recessive allele in pop

equation for genotype frequencies

p2 + 2pq + q2 = 1

equation for allele frequencies

p+q=1

if no mutation, yes rand mating, no selection, no genetic drift, no gene flow, then it

meets conditions for hardy wein

non random mating

unequal chances to mate, no random mixing of gamettes/alleles,

mutation

any heritable change in dna, 1 allele becomes a diff allele, raw material for natural selection

random matinge

each individ in pop equally likley to mate with any indiivid of opposite sex

natural selection

non random changes in allele frequency based on fitness