Presentation on theme: "Basic genetics Haixu Tang School of Informatics. Mendels two innovations Developed pure lines –a population that breeds true for a particular trait Counted."— Presentation transcript:
Basic genetics Haixu Tang School of Informatics
Mendels two innovations Developed pure lines –a population that breeds true for a particular trait Counted his results and kept statistical notes
Phenotypes of Mendel's pea plants round or wrinkled seed phenotype yellow or green seed phenotype red or white flower phenotype tall or dwarf plant phenotype
Results from Mendel's Experiments Parental CrossF 1 PhenotypeF 2 Phenotypic RatioF 2 Ratio Round x Wrinkled Seed Round 5474 Round:1850 Wrinkled 2.96:1 Yellow x Green SeedsYellow6022 Yellow:2001 Green3.01:1 Red x White FlowersRed705 Red:224 White3.15:1 Tall x Dwarf PlantsTalll787 Tall:227 Dwarf2.84:1
Phenotypes Dominant - the allele that expresses itself at the expense of an alternate allele; the phenotype that is expressed in the F1 generation from the cross of two pure lines Recessive - an allele whose expression is suppressed in the presence of a dominant allele; the phenotype that disappears in the F1 generation from the cross of two pure lines and reappears in the F2 generation
Conclusion The hereditary determinants are of a particulate nature. These determinants are called genes. Each parent has a gene pair in each cell for each trait studied. The F1 from a cross of two pure lines contains one allele for the dominant phenotype and one for the recessive phenotype. These two alleles comprise the gene pair. One member of the gene pair segregates into a gamete, thus each gamete only carries one member of the gene pair. Gametes unite at random and irrespective of the other gene pairs involved.
Some terms Allele - one alternative form of a given allelic pair; tall and dwarf are the alleles for the height of a pea plant; more than two alleles can exist for any specific gene, but only two of them will be found within any individual Allelic pair - the combination of two alleles which comprise the gene pair Homozygote - an individual which contains only one allele at the allelic pair; for example DD is homozygous dominant and dd is homozygous recessive; pure lines are homozygous for the gene of interest Heterozygote - an individual which contains one of each member of the gene pair; for example the Dd heterozygote Genotype - the specific allelic combination for a certain gene or set of genes
F1: Symbol representation
F2: Punnett Square Union of Gametes At Random Dd D DD (Tall) Dd (Tall) d dd (Short)
Mendel's First Law The law of segregation: during gamete formation each member of the allelic pair separates from the other member to form the genetic constitution of the gamete
Test the hypothesis
Genotype of the F2 individuals PhenotypesGenotypesGenetic Description F 2 Tall Plants1/3 DD 2/3 Dd Pure line homozygote dominant Heterozygotes F 2 Dwarf Plantsall ddPure line homozygote recessive Thus the F 2 is genotypically 1/4 Dd : 1/2 Dd : 1/4 dd
Backcross: Dd x dd The cross of an F1 hybrid to one of the homozygous parents; for pea plant height the cross would be Dd x DD or Dd x dd; most often, though a backcross is a cross to a fully recessive parent Backcross One or (BC1) Phenotypes: 1 Tall : 1 Dwarf BC1 Genotypes: 1 Dd : 1 dd
Monohybrid Monohybrid cross - a cross between parents that differ at a single gene pair (usually AA x aa) Monohybrid - the offspring of two parents that are homozygous for alternate alleles of a gene pair Remember --- a monohybrid cross is not the cross of two monohybrids.
Variations to Mendel's First Law of Genetics Codominance - a relationship among alleles where both alleles contribute to the phenotype of the heterozygote Incomplete dominance - the F1 produces a phenotype quantitatively intermediate between the two homozygous parents;
Traits exhibiting dominant gene action affected individuals have at least one affected parent the phenotype generally appears every generation two unaffected parents only have unaffected offspring
Traits exhibiting recessive gene action unaffected parents can have affected offspring affected progeny are both male and female
Mendel's Law of Independent Assortment We have followed the expression of only one gene. Mendel also performed crosses in which he followed the segregation of two genes. These experiments formed the basis of his discovery of his second law, the law of independent assortment.
Dihybrid cross Dihybrid cross - a cross between two parents that differ by two pairs of alleles (AABB x aabb) Dihybrid- an individual heterozygous for two pairs of alleles (AaBb)
Mendels experiment Parental Cross: Yellow, Round Seed x Green, Wrinkled Seed F1 Generation: All yellow, round F2 Generation: 9 Yellow, Round, 3 Yellow, Wrinkled, 3 Green, Round, 1 Green, Wrinkled Seed Color: Yellow = G; Green = g Seed Shape: Round = W; Wrinkled = w
Mendel's Second Law - the law of independent assortment During gamete formation the segregation of the alleles of one allelic pair is independent of the segregation of the alleles of another allelic pair.
backcross - F1 dihybrid x Female Gametes GWGwgWgw Male Gamet es gw GgWw (Yellow, round) Ggww (Yellow, wrinkled) ggWw (Green, round) ggww (Green, wrinkled) The phenotypic ratio of the test cross is: 1 Yellow, Round Seed 1 Yellow, Wrinkled Seed 1 Green, Round Seed 1 Green, Wrinkled Seed
The Chi-Square Test An important question to answer in any genetic experiment is how can we decide if our data fits any of the Mendelian ratios we have discussed. A statistical test that can test out ratios is the Chi-Square or Goodness of Fit test. Degrees of freedom (df) = n-1, where n is the number of classes
An example Let's test the following data to determine if it fits a 9:3:3:1 ratio. Observed ValuesExpected Values 315 Round, Yellow Seed(9/16)(556) = 312.75 Round, Yellow Seed 108 Round, Green Seed(3/16)(556) = 104.25 Round, Green Seed 101 Wrinkled, Yellow Seed(3/16)(556) = 104.25 Wrinkled, Yellow 32 Wrinkled, Green(1/16)(556) = 34.75 Wrinkled, Green 556 Total Seeds 556.00 Total Seeds Number of classes (n) = 4 df = n-1 + 4-1 = 3 Chi-square value = 0.47
A Chi-Square Table Probability Degrees of Freedom 0.90.50.1 0.050.05 0.01 10.020.462.71 3.843.84 6.64 20.211.394.61 5.995.99 9.21 30.582.376.25 7.827.82 11.35 41.063.367.78 9.499.49 13.28 51.614.359.24 11.0711.07 15.09
Pleiotropic Effects and Lethal Genes In 1904, a cross was made between a yellow-coated mouse and a mouse with a gray coat. The gray- coated mouse was extensively inbred and therefore was considered to be pure bred.
Next a cross was made between two yellow mice. What genetic ratio would we expect to see? Yy x Yy should give a ratio of 3 yellow:1 gray. The result, though, was a ratio of 2 yellow to 1 gray mice. How can this result be explained? Let's first set up a Punnett Square.
Testcross All testcross data with the yellow mice give a 1:1 ratio. This ratio is typical of what is seen with heterozygous individuals. All of the yellow mice from the cross of two heterozygous yellow mice are genotypically Yy. Somehow the YY genotype is lethal. The 2:1 ratio is the typical ratio for a lethal gene.
Lethal gene Lethal Gene - a gene that leads to the death of an individual; these can be either dominant or recessive in nature. Pleiotropic gene - a gene that affects more than one phenotype
Epistasis The interaction between two or more genes to control a single phenotype
Modifier Genes Instead of masking the effects of another gene, a gene can modify the expression of a second gene. In mice, coat color is controlled by the B gene. The B allele conditions black coat color and is dominant to the b allele that produces a brown coat. The intensity of the color, either black or brown is controlled by another gene, the D gene. At this gene, the dominant D allele controls full color whereas the recessive d allele conditions a dilute or faded expression of the color expression at the B gene. Therefore, if a cross is made among mice that are BdDd, the following phenotypic distribution will be seen: –9 B_D_ (black) –3 B_dd (dilute black) –3 bbD_ (brown) –1 bbdd (dilute brown) The D gene does not mask the effect of the B gene, rather it modifies its expression.
Gene linkage One experiment was performed by Bateson and Punnett with sweet peas. They performed a typical dihybrid cross between one pure line with purple flowers and long pollen grains and a second pure line with red flowers and round pollen grains. Because they knew that purple flowers and long pollen grains were both dominant, they expected a typical 9:3:3:1 ratio when the F1 plants were crossed.
ObservedExpected Purple, long (P_L_)284215 Purple, round (P_ll)2171 Red, long (ppL_)2171 Red, round (ppll)5524 Total381
Linked Genes On The Same Chromosome F 1 GameteTestcross DistributionGamete Type pr + vg + 1339Parental pr + vg151Recombinant pr vg + 154Recombinant pr vg1195Parental
Coupling and repulsion F 1 GameteTestcross DistributionGamete Type pr + vg + 1339Parental pr + vg151Recombinant pr vg + 154Recombinant pr vg1195Parental
GenotypeObservedType of Gamete ABC390Parental abc374Parental AbC27Single-crossover between genes C and B aBc30Single-crossover between genes C and B ABc5Double-crossover abC8Double-crossover Abc81Single-crossover between genes A and C aBC85Single-crossover between genes A and C Total1000