Organization of Genetics Course Molecular Genetics Cytogenetics Transmission Genetics
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• Gregor Mendel - studied pea plants, looked at traits.
• Heritable features (characters) with different variants (traits).
• Pea plants self-fertilize; Mendel cross-fertilized to study traits.
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• Mendel cross-pollinated (hybridized) 2 true-breeding pea varieties.
• True-breeding parents - P generation; hybrid offspring - F1 generation.
• F1 hybrids then self-pollinate to produce F2 generation.
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http://nitro.biosci.arizona.edu/courses/EEB320-2005/Lecture02/pics/pea.jpeg
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• Thought genes blended - purple flower crossed with white flower result would be light purple flowers.
• All the flowers purple.
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• F1 self-fertilized, white flower reappeared in next generation.
• Ratio of purple to white in F2
generation was 3:1.
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• Mendel’s hypotheses:• 1Alternative versions of genes
(alleles) account for variations.• 2Organism inherits 2 alleles, 1
from each parent - can be same or different.
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• 32 alleles differ - dominant allele fully expressed in organism.
• Recessive - no noticeable effect on organism’s appearance.
• 42 alleles segregate (separate) during gamete production.
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• Mendel’s laws:• 1Dominance and recessiveness -
one gene is dominant over the more recessive gene.
• 2Segregation - alleles separate during meiosis.
• 3Independent assortment - alleles organize in gametes regardless of other alleles.
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• Punnett square predicts results
of genetic cross between individuals.
• Testcross - breeding homozygous recessive with dominant phenotype but unknown genotype. QuickTime™ and a
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• Started with monohybrid crosses meaning (one trait at a time)
• Then did dihybrid crosses (two different traits)
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• Based on probability.• Toss coin 4 times - ½ chance -
heads every time.• Tosses independent of each
other.• Coming up heads all four times -
½ * ½ * ½ * ½ = 1/16 - rule of multiplication.
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• Law of addition - chances of an event happening in different ways.
• 2 ways F1 gametes can combine to form heterozygote; dominant allele from sperm, recessive from ovum (= 1/4).
• Dominant allele from ovum, recessive from sperm (= 1/4).
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• Incomplete dominance - heterozygotes have completely different phenotype than homozygotes (can happen in snapdragons)
• Homozygous recessive flowers - white; homozygous dominant - red; heterozygotes - pink.
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• Codominance - two alleles affect phenotype in separate, distinguishable ways (example blood type)
• Inherit A allele and B allele - blood type will be AB; AA or AO - blood type will be A.
• A is dominant to O, B is dominant to O, but A is codominant to B.
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• Type A - anti-B antibodies.• Exposed to B blood - clump
together causing a transfusion reaction.
• Type O - both antibodies - can donate to any other blood type.
• AB - neither antibodies - can receive from any blood type.
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• Most genes do not control only one trait but are pleiotropic - affecting more than one phenotypic character.
• Epistasis - gene at one locus alters phenotypic expression of gene at second locus.
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• Example - In mice, one gene determines whether or not there will be coat color.
• If gene is turned off, mouse will be white; if turned on, another locus will determine what color is (brown or black).
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• Quantitative characteristics vary along continuum - polygenic inheritance - more than one gene controls single trait.
• Skin color controlled by at least three different genes - responsible for variety of skin colors.
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• Phenotype depends on environment.
• Humans - nutrition influences height, exercise alters build, sun-tanning darkens skin, experience improves performance on intelligence tests.
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• Geneticists use pedigrees to look at traits found in families.
• Family tree created showing absence or presence of specific trait to determine how it is passed.
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• Ethnicity plays role in genetic disease patterns.
• Sickle-cell anemia found predominately in African-Americans.
• Causes red blood cells to be sickle shaped instead of normal shape causing cells to get stuck in vessels.
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• Cystic fibrosis affects mostly Caucasians.
• Cystic fibrosis - multi-system disease - causes mucous to build up in various organs, especially lungs.
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• Tay-Sachs affects people of Jewish descent.
• Tay-Sachs affects brains of small children causing death of child prior to 5 years old.
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• Dwarfism - child 50% chance of inheriting disease because one parents has it.
• Huntington’s affects nervous system.
• Most dominant diseases not lethal (Huntington’s disease is).
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• Genetic counseling works with people that have history of genetic disease in family.
• Child with recessive disease can be born to phenotypically normal parents.
• Tests are performed to determine couple’s risk.
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• 1Amniocentesis - cells extracted from amniotic fluid surrounding fetus; then analyzed to search for potential problems through karyotyping.
• Karyotyping - mapping out chromosomes of individual.QuickTime™ and a
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• 2Chorionic villus sampling (CVS) - faster karyotyping - extracts sample of fetal tissue from chorionic villi of placenta.
• 3Ultrasound detects only physical abnormalities present.
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• Thomas Morgan - fruit fly eye color.
• Wild type (normal) eye color - red; mutant - white.
• Discovered mutant eye color appeared more often in males - some traits sex-linked (carried on sex chromosomes).
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• Chromosomes have hundreds or thousands of genes.
• Genes located on same chromosome, linked genes, inherited together - chromosome passed as unit.
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"A" and "B" are linked due to their occurrence in the same chromosome. Similarly, "a" and "b" are linked in the other chromosome.
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• Production of offspring with new combinations of traits inherited from 2 parents - genetic recombination (can occur during crossing over)
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• Genetic map - list of the loci along the chromosomes.
• Further apart genes are, higher probability they will switch places.
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• 2 sex chromosomes - X and Y.• Males – XY, females - XX. • Other species - X-0 system, Z-W
system, haplo-diploid system.• Humans - X-Y system like
normal chromosomes - 50/50 chance of having male or female.
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• Until embryo is 2 months old - fetus female.
• If fetus XY - SRY gene turned on making fetus male.
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• Sex chromosomes, have genes for traits other than sex.
• Trait recessive - female will only inherit it if both parents pass it on.
• Males - 50% chance of inheriting it (only have 1 X chromosome)
• Males have higher rate of sex-linked diseases than females.
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• Muscular dystrophy - sex-linked disease.
• Affects far more males than females.
• Hemophilia (excessive bleeding) - sex-linked.
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• Only 1 X in females turned on.• Other - Barr body - reactivated
in ovaries during egg production (to pass genes on).
• Females exhibit characteristics from mother, some from father (sex chromosomes only).
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Barr body replicated,not transcribed
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• Pattern responsible for mosaic of effects (tortoiseshell cats)
• Due to patches of cells expressing orange allele, others have non-orange allele (almost always female cats)
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• 1Nondisjunction - homologous chromosomes fail to separate during meiosis I, or chromatids - during meiosis II.
• Some gametes receive 2 of same type of chromosome; another gamete receives no copy.
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• Abnormal # of chromosomes - aneuploidy.
• Trisomy - gamete receives 3 of same chromosomes (2n + 1).
• Monosomy - gamete receives 1 of same chromosome (2n – 1).
• Earlier in development - more profound effect - those cells go through mitosis.
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• More than 2 complete sets of chromosomes - polyploidy (happens more with plants)
• Species with polyploidy usually more normal than aneuploidy (no missing chromosomes)
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A rodent species that is the result of polyploidy
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• 2Deletion - piece of chromosome broken off.
• 3Duplication - fragment becomes attached as extra segment to sister chromatid.
• 4Inversion - piece breaks off, turns around, reattaches (backwards).
• 5Translocation - chromosomal fragment joins nonhomologous chromosome.
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• Down syndrome - trisomy (Trisomy 21).
• Chromosome 21 - smallest chromosome - individual can survive.
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• Aneuploidy can occur in sex chromosomes.
• Klinefelter’s syndrome - male XXY (nondisjunction)
• Trisomy X (XXX) can occur in females.
• Monosomy X - Turner syndrome - nondisjunction.
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• Deletion - cri-du-chat - chromosome 5.
• Chronic myologenous leukemia - translocation between chromosome 9 and chromosome 22.
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• Some traits dependent on who passes alleles (mother or father)
• Prader-Willi syndrome caused by deletion on chromosome 15 (father)
• Deletion from mother - Angelman syndrome.
• Genomic imprinting - gene on 1 homologous chromosome silenced, allele on homologous chromosome expressed.
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• Some eukaryotic genes located in mitochondria.
• These genes all passed from mother to offspring; none of father’s mitochondrial genes passed on.
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Coloration due to mitochondrial genes