Genetics
Father of genetics
Gregor Mendel
What did Mendel know?
What did Mendel do?
Trait
Heritable trait / BASIC GENETICS REVIEW
· study of heredity (inheritance of traits).
· Austrian monk born in 1822.
ü high school teacher and gardener.
ü studied inheritance in garden pea plants.
· flowers have male and female parts.
ü produce pollen and egg cells.
ü fertilization: male and female sex cells join
to form new cell
ü peas are self-pollinating.
§ true-breeds: produce offspring like
themselves when s-p.
· crossed true-bred peas: fertilized one plant with pollen from another.
ü hybrids: offspring (F1) of crosses between
parents (P) with different traits.
· true-bred short male(tt) X true-bred tall mom(TT)
ü hybrid offspring = Tt
· specific characteristic varies betw/ individuals.
· trait that can be passed on to offspring.
What did Mendel conclude?
Principle of dominance
What did Mendel do next?
Law of Segregation / · factors that control traits are passed from generation to generation.
ü genes: chemical factors that determine traits
ü alleles: contrasting forms of a gene.
§ e.g. gene for “tallness” or “shortness”
· some alleles are dominant; some are recessive.
ü dominant allele: if present this trait is seen.
ü recessive allele: seen if dominant allele is
not present.
ü e.g. trait = plant height
tt = short plant
Tt or TT = tall plant
· crossed hybrid pea plants (Tt X Tt)
ü recessive trait not seen in F1.
ü recessive trait seen in F2!
· alleles separate when gametes (sex cells) are formed (during meiosis).
· SO…..4 possible combinations of gametes during fertilization
Probability
Genetics?
Punnett Square
Vocabulary
Monohybrid cross
example
/ Genetics and Probability
· likelihood that a particular event will occur.
ü each toss is separate: heads = ½ each toss.
· probability can be used to predict outcomes of genetic crosses.
ü predictions are averages not absolutes
ü larger sample sizes closer to predictions.
· diagram used to record possible gene combinations from genetic crosses.
genotype: genetic makeup: write out alleles:“3Tt: 1tt”
phenotype: physical characteristics: “3 tall: 1 short”
homozygous: 2 identical alleles for a trait: TT or tt
heterozygous: 2 different alleles for a trait: Tt
· cross 2 heterozygous tall plants (Tt x Tt)
ü Offspring genotypes:
Ø ¼ homozygous tall (TT);
Ø 2/4 heterozygous tall (Tt);
Ø ¼ homozygous short (tt)
ü offspring phenotypes: ¾ tall; ¼ short
Dihybrid cross
Example
Parents (P)
Filial (F1)
2nd generation (F2)
Principle of Independent Assortment
Summary of Mendel’s Principles / · cross true-bred pea plants with 2 traits
ü dominant: round(R); yellow(Y)
ü recessive: wrinkled (r); green (y)
· RRYY (round/yellow) X rryy(wrinkled/green)
ü offspring: RrYy (hybrid)
· cross 2 F1 plants RrYy X RrYy
ü possible gametes (FOIL): RY, Ry, rY, ry
· genes for different traits segregate (separate) independently during formation of gametes.
ü creates variation in offspring.
1. Inheritance determined by genes passed from parents to offspring.
2. Alleles of genes can be are dominant or recessive.
3. Somatic cells have 2 copies of each gene (1 from mom; 1 from dad).
4. Genes segregate independently of each other (RrYy) = RY, Ry, rY, ry.
Incomplete Dominance
Example
Codominance
Example
Multiple Alleles
Example
Blood type
Example
Sex linked genes
Example
Polygenic Traits
Epigenetics
(epi = above) / OTHER PATTERNS OF INHERITANCE
It’s not always so simple……
· no allele is completely dominant.
ü heterozygote is blend of 2 homozygous phenotypes.
· red carnation X white carnation = pink carnation.
P genotype: ___X___
F1 genotype: ______phenotype: ______
· both alleles dominant: both show up in phenotype of offspring.
· red cow X white cow = roan cow (red and white).
P genotype: ___X___
F1 genotype: ______phenotype: ______
· more than 2 forms of a gene
ü more than one allele is dominant.
ü more than 2 phenotypes in population.
· alleles: dominant = A B; recessive = O
genotype / phenotype
AA / A
AO / A
BB / B
BO / B
AB / AB*
OO / O*
possible blood types
P phenotype: ____X____
F1 genotype: ______
F1 phenotype: ______
· Gene located on X or Y chromosome (more commonly X…the Y chromosome is tiny)
1. Colorblindness (recessive gene) located on X chromosome
ü possible genotypes: XC Xc , XCXC, XcXc, XCY, XcY
ü to be colorblind females need XcXc, males only need XcY
P genotype: ____X_____
F1 genotype: ______F1 phenotype: ______
2. Hemophilia carried on X chromosome
ü possible genotypes:XH Xh, XHXH, XhXh, XHY, XhY
P genotype: ____X_____
F1 genotype: ______F1 phenotype: ______
· traits controlled by 2 or more genes.
ü human skin color, eye color, height.
ü AABBCCDD X aabbccdd…..many combinations.
ü MANY intermediate phenotypes possible
· traits determined by interaction of genes and environment.
ü Genes are the PLAN.
ü ENVIRONMENT determines how plan unfolds.
· smoking, diet, stress, prenatal nutrition, trauma, etc. can affect which genes are turned on or off.
ü chemical “tags” on DNA or change in histones.
ü may be inherited over multiple generations.
ü can change over a lifetime.
Mitosis Review
Meiosis
WHY? / MEIOSIS
· 1 cell division results in 2 genetically identical daughter cells
ü makes cells for growth, repair, asexual reproduction
ü occurs in somatic (body) cells
ü starts and results in diploid cells (2n)
Ø 2 sets of homologous chromosomes
Ø 1 set from mom; 1 set from dad
· 2 cell divisions results in 4 daughter cells with ½ the number of chromosomes
ü makes gametes (sex cells)
ü occurs in sex organs of animals, plants, fungi, etc.
ü starts with diploid cell (2n)
ü results in 4 haploid cells (n)
Chromosomes
Crossing over
Gene Linkage and Mapping /
· different number for each species.
· humans: 2N = 46; 1N = 23
· dog: 2N = 78; 1N = 39
· shrimp: 2N = 254; 1N = 127
· pineapple: 2N = 50; 1N = 25
· homologous chromosomes exchange parts during Prophase I of meiosis
· increases genetic variation
· genes can be mapped to specific locations on chromosomes.
ü figured out with fruit flies.
Ø linked traits are on the same chromosome.
ü linked genes not always inherited together
Ø chromosomes cross-over during meiosis
ü linkage maps show relative location of genes
Ø lower cross-over frequency = closer
· cross-over frequencies: A-B=8% B-C=10% C-A=2%