2Objectives4.3.1 – Define dominant allele, recessive allele, codominant alleles, locus, homozygous, heterozygous, genotype, phenotype, carrier, and test cross.4.3.2 – Determine the genotypes and phenotypes of the offspring of a monohybrid cross using a Punnett grid.
3Review of DNA Structure Eukaryotic DNA is divided among several chromosomes (humans have 23 pairs of chromosomes – one set from each parent).Chromosomes are divided into units called genes.Genes code for the body’s proteins: eye pigment.Genes come in versions called allelesEye color gene – either brown or blue allele.Result of mutation.
4DefinitionsLocusThe particular position of a gene on homologous chromosomes.Homologous:codes forthe samethings.
5Definitions Homozygous vs. heterozygous alleles An organism with two identical alleles for a character is homozygous for that character.Organisms with different alleles for a character are heterozygous.Bb BB bb
6Definitions Dominant & recessive allele (complete dominance) A dominant allele is strong and is expressed (or seen) in the phenotype. (Abbreviated with capitals)A recessive allele (if present in a heterozygous individual) is not expressed; it is hidden because it is weak. Reces sive alleles only show up if the in dividual is homo zygous. (Lowercase letters)Bb BB bb
7Definitions Incompletely dominant alleles Sometimes, neither allele (when heterozygous) can overpower the other. They produce a blend.= allele for white flower color (Incomplete dominance)= allele for red flower color (Incomplete dominance)Pink Red Whiteflowers flowers flowers
8Definitions Codominant alleles Pairs of alleles that both affect the phenotype when present in a heterozygote.Ex: Blood groups:A, B, O are alleles that code for a sig nal protein on the membrane surface O is recessive, but A & B codominant.Punnet square
9Definitions Genotype vs. phenotype: All the many alleles of an organism (for eye color, hair color, seed appearance, etc.) make up its genotype [genetic make-up; think: type of genes].An organism’s physical characteristics make a phenotype.
10The science of genetics Genetics - the study of heredity.Heredity – a characteristic of life: the passing of traits from parents to offspring.Traits - characteristics such as eye color, body size, sickle cell anemia, etc.The science of genetics be gan with an Austrian monk named Gregor Mendel in the 1860s, working with pea plants (Pisum sativum).
11The science of genetics Mendel studied pea flower, seed & pod color, and seed shape.Did careful pollination work & counted offspring.Ex: he mated plants with white flowers to plants with purple flowers, or plants with wrinkled seeds to plants with smooth seeds (the parental generation, or P).
12The science of genetics Mendel’s work with peas:Mendel found that plants of the first generation (F1) were often identical.Ex: all had purple flowers or all had yellow seeds. →→But mating the first generation (F1) plants gave a 3:1 ratio in the 2nd generation (F2).*F standsfor filial (son)F1 generationF1 generation
13Mendel’s Law of Segregation A pair of allelic genes for a particular character, like eye color, separate (segregate) in equal ratios during gamete formation.During meiosis, alleles are separated on a 1:1 ratio into sperm and eggsEx: if the genotype = Gg, half the sperm must contain G and the other half must contain g.
14Punnet grids To make a Punnet grid: Determine the geno type of the parents.Make every possible combination of gamete.Combine the sperm and the egg.Determine the phenotypes from the genotypes of the offspring.A monohybrid cross:one locus is consideredMale parentFemaleparentSpermEggsP represents the gene that makes thepurple flower pigment. The allele p ismutated, and the protein is defective.All F1 offspring are Pp and purple.
15Punnet grids To make a Punnet grid: F1generationTo make a Punnet grid:Determine the geno type of the parents.Make every possible combination of gamete.Combine the sperm and the egg.Determine the phenotypes from the genotypes of the offspring.F2generation
16Punnet grids Incomplete dominance Ex: red and white snapdragon flowers Blending of colorA 1:2:1 ratio of offspring
17Test cross To test an unknown individual: Testing a suspected heterozygote by crossing it with a known homozygous recessive individual.1 of 2 possible outcomes shows the genotype of the unknown parent.
18Objectives4.3.3 – State that some genes have more than two alleles (multiple alleles).4.3.4 – Describe ABO blood groups as an example of codominance and multiple alleles.
19Mendel’s Law of Independent Assortment Alleles of genes on nonhomologous chromosomes assort independently during meiosis.All blonds do not have blue eyes.Hair color & eye color are on different chromosomes.Chromosomesare shuffled.
20Punnet grids To make a dihybrid cross (crossing 2 pairs of genes): From parents’ genotypes, determine gametes.every possible combinationMake every possiblecombination of gametes.(independent assortment)
21Punnet grids To make a dihybrid cross: From parents’ genotypes, determine gametes.Combine the sperm and eggs, and determine phenotypes.
22Multiple alleles Codominant alleles Pairs of alleles that both affect the phenotype when present in a heterozygote.Ex: Blood groups:A, B, O are alleles that code for a sig nal protein on the membrane surface O is recessive, but A & B codominant.Punnet square
23Multiple alleles Some genes have more than two alleles. ABO blood group shows codominance of multiple alleles (IA and IB are codominant; i is recessive).O (ii) is the universal donor; AB accepts any blood.
24Punnet square Punnet square for blood groups I is dominant, but there are 2 types: IA & IBi is recessive.Here, a mother withblood group O mateswith a father who’s AB.
25Punnet square Punnet square for sex-linked traits For genes found on a sex chromosome, X or Y.Remember, boys have only one X chromosome, so they are more likely to get these diseases, like color-blindness or hemophilia.Notice, 50% of babiesare boys, and 50% aregirls. Girls get 2 X’s, sothey are likely to havea good back-up copyand don’t get affected.
26Multiple alleles Polygenic inheritance Two alleles on each of three genes have an additive effect on skin color.
27Genetic diseases Sickle-cell anemia The gene for hemoglobin is mutated.An individual with two copies of the recessive allele can’t move oxygen around the body well.
28Genetic diseases Sickle-cell anemia A carrier is an individual that has one copy of a recessive allele that causes a genetic disease in individuals that are homozygous for this allele.Carrier genotype = Hhs - resistant to malariaThe gene for hemo-globin (H) is mutated.Both HhsHHhshsHhsHomozygous recessiveindividuals often dieyoung.
30Diseases linked to sex chromosomes Sex-linked traits: genes are on the sex chromosomesXX individuals are femaleXY individuals are male.Theoretically 50:50 male:female.Actually ~51:49 male:female at birththen 50:50 by age 3 (boys weaker).
31Diseases linked to sex chromosomes Color-blindness is caused by a defective gene for a pig- ment receptor in the eye. Gene is on X chromosome.Boys only get 1 X, so they are more likely than girls to get this problem.
32Diseases linked to sex chromosomes Color-blindness is caused by a defective gene for a pig- ment receptor in the eye. Gene is on X chromosome.Boys only get 1 X, so they are more likely than girls to get this problem.Retina ofthe eye
33Diseases linked to sex chromosomes Hemophilia: a genetic disease in which the body does not produce sufficient amounts of a clotting factor. As a result, fibrin (necessary to maintain the blood clot) does not form, so the individual is more likely to bleed long er from a wound, and to bleed internally.The gene for this clotting factor is on the X chromo- some.Boys have noback-up copyof the X.
34Genetic diseases - sex linkage Hemophilia: genotypic & phenotypic ratiosThe female carrieris heterozygous**Note: the daughters can be either heterozygous for sex-linkeddiseases or homozygous if a carrier mother marries a diseased man.1 in 10,000 males is affected with hemophilia,and 1 in 100,000,000 females.
35Genetic diseases Hemophilia: A case study Alexei, tsarevich of Russia inherited the disease from his mother.The original mutation in this lineageoccurred in Queen Victoria.
36Pedigrees X-linked dominant trait passed from the father: Only his daughters get the disease.
37Pedigrees Y-linked trait (carried on the Y chromosome). Only boys get the disease.
38Karyotype A karyotype is a picture of the body’s chromosomes It shows abnormalities, also the individual’s sex.
39Karyotype A karyotype is a picture of the body’s chromosomes It shows abnormalities, also the individual’s sex.Down Syndrome – three copies of chromosome 21.