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Genetics 320 Exam 1

Pr(A) lies between for all A 0 and 1
The sum of probabilitys of all mutually exclusive events is 1
AND rule Pr(A and B)= Pr(A)x Pr(B)
OR Rule Pr(A or B)= Pr(A)+ Pr(B)
Joint Probability Pr(A,B)= Pr(A|B)x Pr(B)
Conditional Probability Pr(A|B)
Disease Relative Risk(RR) the increase in the conditional probability for a sibling vs. a random individual
Bayes Theorem Pr(B|A)= Pr(A|B) x Pr(B)/ Pr(A)
Waiting time/# of draws until event
Geometric Distribution Pr(first success in trial n+1)=(1-p)^n x p
Exponential Distribution Prob(T<x)= 1 -exp(-xa)a= per time of unit rate of risk(assumed constant)
Memoryless feature the constant risk per unit of time means knowing how long it has been since the last failure provides no information on when the next will occur
Binomial Distribution n trials, each with probability p of successexpected # of successes n x pProb(k successes)=[n!/{(n-k)!k!}]p^k (1-p)^(n-k)
Poisson Distribution Prob( exactly k successes)=m^k exp(-m)/k!Prob(no successes)= exp(-m)
Normal/ Gaussian Distribution classic bell curve
Independent assortment the genes are on different chromosomes
Linkage the genes are on same chromosomes
pleiotropy an alleles influence on two(or more) traits
temperature sensitivity allele temperature inactivated, environment influences the phenotype of an allele, ex: himalayan rabbit
Penetrance how often a gene expresses a trait
incomplete penetrance genotype does not always express the phenotype of interest
expressivity variance in levels of expression when a trait appears
phenocopies the appearance of a trait without being caused by the genotype of interest
Dominance phenotype of the heteozygote is the same as the phenotype of the homozygote
Incomplete Dominance phenotype of the heterozygote is intermediate between the phenotypes of the two homozygotes
Codominance phenotype fo the heterozygote is includes the phenotype of both homozygotes
Self-incompatibility alleles involves multiple alleles that are lethal in certain combos, avoids "selfing" or reproducing with itself
Epistasis the interaction between alleles at different genes
duplicate dominant epistasis both nyst be homozygous recessive for the trait to appear
Mitosis identical replication of cells
meiosis creating haploid gametes from a diploid cell, two stages: reductional division and mitotic division, result is four gametes
bacteria single circular chromosome, single origin of replication
eukaryotes typically have multiple linear chromosomes
metacentric centromere is central
acrocentric centromere is up at the top, small top, big bottom
telocentric cetromere is at the bottom, no top, small bottom
submetacentric centromere is between where meta and acros is--> below meta
Static (G0) cells stable nondividing phase
Interphase gaps 1 and 2, and synthesis phases; nuclear membrane is present and chromosomes are relaxed
Mitoticphase(M phase) prophase,metaphase, anaphase, telophase, cytokinesis
Prophase chromosomes condense each chromosome posses two chromatids, mitotic spindle forms
Prometaphase nuclear membrane disintegrates, spindle microtubules attatch to chromatids
Metaphase chromosomes line up on the metaphase plate
Anaphase sister chromatids separate and move towards opposite poles
Telophase chromosomes arrive at spingle poles. nuclear membrane re-forms and teh chromosomes relax
centrosome the anchor in the cell
kinetochore anchor for each chromosome
microtubules the pulleys/rope to more chromosomes towards the centrosomes, sitting at the spindle pole position
Prophase 1 five stages: leptotene, zygotene, pachytene, diplotene, diakinesischromosome pairing occurs in leptotene and zygotenesynaptonemal complex(holding homologous chromosomes together) occurs in pachytenecrossing over= diplotene
Middle Prophase 1 chromosomes begin to condense and the spindle forms
Late Prophase 1 homologous chromosomes pair, chiasmata or crossing over takes place and the nuclear membrane breaks down
Metaphase 1 homologous pairs of chromosomes line up along the metaphase plate
Anaphase 1 homologous chromosomes separate and move toward opposite poles
Telophase 1 chromosomes arrive at the spindle poles and cytoplasm divides
Prophase II chromsomes recondense
metaphase II individual chromosomes line up on the equatorial plate
Anaphase II sister chromatids separate and move toward opposite poles
Telophase II chromosomes arrive at the poles and cytoplasm divides
Interkinesis in some types of cells the spindle breaks down, chromosomes relax and nuclear envelopes reforms, but no DNA synthesis occurs
Cytokinesis(meiosis) 2, 1 before interkinesis and 1 at the end
key difference in mitosis and meiosis follow the centromeres
Dioecious separate sexesmost(but not all)animals, some plants
monoecious hermaphrodites, many plants, some animals
chromosome based systems differentiated sex chromosomes(morphologically different)--> animals mostlyindifferentiated sex chromosomes--> plants
single gene based systems yeast mating type, common for unicelluar species
Homogametic sex sex containing two like sex chromosomes
heterogametic sex two unlike sex chromosomes
SRY sex determining region(on the Y)
androgen insensitivity syndrome have internal testes, but phenotypically female(sterile), testosterone is produced but cells lack testosterone receptor, hence stay female
x-autosome counting systems drosphilia determine sex NOT by the presence of the Y but by the ratio of the number of X's to number of autsomal sets--> 1/2= male, 1= female
Haplodiploidy males haploid, females diploidsex: bees, females can make males by not fertilizing the egg
Dosage-compensation x-inactivation in mammalsin fruit flies, bia differential x expression between the sexes, overexpress X in male(hyperactivation)
x chromosome inactivation in each female cell, all but one X are randomly inactivated, creating a mosaic in a femalealso called Barr Body
reciprocal crosses in sex-linked traits different ration of offspring between male A x female B vs. female A x male B
hemizygous X^A males
Imprinting genetic phenomena that can mimic se-linkage(difference in reciprocal crosses
Rods one billion per retinacontain Rhodopsin(bleaches when exposed to light which converts light into shades of gray)responsible for night vision, very sensitive to low levels of light
COnes seven million per retinathree typeseach type contains a single opsin pigment(red blue, or green)absorbs light as slightly different wave lengths
blue opsin autosomal
red and green opsin sex-linked, tighly linked to x chromosome
red and green colorblindness more common in males and more common over blue colorblindness
maternal cytoplasm contributes to the embyro, maternally encoded mRNAs, proteins, over factors in developing eggs
mtDNA and cpDNA almost always uniparentially inherited(typically the female)transmitting the gemones to their offspring
extranuclear genes usualy uniparentaluse replicative segregation
human mtDNA genome ~17,000 base pairscomplete set of RNAssmall and large riboRNAs(bacterial)codes for about a dozen proteins
mtDNA genome all sequenced have about the same number of genes, vary greatly in size, uses slightly different genetic code
chloroplast genome ~120-220 kilo~140 genes4 rRNAs30 tRNAs90 protein coding genes, 20 for photosynthesis of these
Created by: eapple on 2009-09-24

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