Mendel s Laws. Patterns of Gene Inheritance. Gregor Mendel. What We Know Now. Gene locus. The Inheritance of a Single Trait.
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1 Mendel s Laws Patterns of Gene Inheritance Gregor Mendel - Austrian monk Developed laws of heredity Worked with pea plants Investigated genetics at organism level Gregor Mendel What Mendel Said: 1. Characteristics controlled by unit factors exist in pairs in organisms 2. When two unlike unit factors responsible for single character present in single individual, one dominant and other recessive. 3. Each individual has two unit factors for each trait formed in gametes Must separate (segregate) factors during gamete formation so that each gamete receives only one version of two factors (=law of segregation) What We Know Now Alternative forms of a gene having the same position on pair of homologous chromosomes affect the same trait = alleles Alleles occur at same loci (position) on chromosome Factors segregate during formation of gametes Each gamete has one factor from each pair Happens in anaphase of meiosis I Fertilization gives each new individual two factors again Gene locus The Inheritance of a Single Trait - COMPLETE DOMINANCE INHERITENCE - A capital letter indicates a dominant allele, which is expressed when present. An example is W for widow s peak A lowercase letter indicates a recessive allele, which is expressed in the absence of a dominant allele. An example is w for continuous hairline. 1
2 Widow s peak Genotype - Genotype - genes of individual represented by two letters or descriptive phrase Homozygous - both alleles same; for example, WW, homozygous dominant and ww, homozygous recessive. Heterozygous -both alleles pair present and different, Ww. Phenotype Phenotype - physical or observable characteristic of individual WW and Ww result in widow s peak, two genotypes with the same phenotype NOTE: So far we have only discussed the concept of complete dominance When dominant allele of characteristic is expressed over recessive allele Other types of dominance in allele expression discussed later Gamete Formation Because homologous pairs separate during meiosis, a gamete has only one allele from each pair of alleles. If the allelic pair is Ww, a gamete would contain either a W or a w, but not both. Ww represents the genotype of an individual. Gametes are represented by W or w. One-Trait Crosses In one-trait crosses, only one trait such as type of hairline is being considered. When performing crosses, the original parents are called the parental generation, or the P generation. All of their children are the filial generation, or F generation. 2
3 Punnett Squares Monohybrid Cross If know genotype of parents, it s possible to determine gametes and use Punnett square to determine phenotypic ratio in offspring When a monohybrid reproduces with a monohybrid, results are 3 : 1 Ratio used to state chances of particular phenotype 3 : 1 ratio means there is a 75% chance of the dominant phenotype and a 25% chance of the recessive phenotype appearing in F1 progeny The One-Trait Testcross It is not always possible to determine a homozygous dominant from a heterozygous individual by the phenotype A testcross crosses the dominant phenotype with the recessive phenotype If homozygous recessive phenotype is found in offspring, parent must be heterozygous One-trait testcross The Inheritance of Many Traits Independent Assortment Law of independent assortment states that each pair of alleles segregates independently of the other pairs and all possible combinations of alleles can occur in the gametes. Law dependent on random arrangement of homologous pairs at metaphase 3
4 Segregation and Independent Assortment One-Trait Crosses and Probability Laws of probability used to determine results of a cross The laws are: (1) Probability of two or more independent events occurring together is product of chance occurring separately (2) Chance an event can occur in two or more independent ways is sum of individual chances Probability Exemplar In the cross of Ww x Ww, what is the chance of obtaining either a W or a w from a parent? Chance of W =.5, or chance of w =.5 The probability of these genotypes is: The chance of WW =.5 x.5 =.25 The chance of Ww =.5 x.5 =.25 The chance of ww =.5 x.5 =.25 The chance of ww =.5 x.5 =.25 The chance of widow s peak (WW, Ww, ww) is =.75 or 75%. We know this because the the possible outcomes of 2 or more events are independent of one another, but can be accomplished in summation to each other = Sum Law Sponge Question Consider the two genes: Y (yellow) and y (green) and R (round) and r (wrinkled). If the P1 generation looks like the following and thus has the genotype listed: 1. What will be the genotypic and phenotypic rations of the F1 progeny? 2. If you Cross two F1 progeny, what will be the genotypic and phenotypic rations of the F2 generation? Sponge Answer Possible Gametes of P1: yr and Yr Cross: male Yr female yr YyRr Given the F1 YyRr: F1 = 1/1, 100%, YyRr, yellow round seeds 1.) All possible gametesof RrYy: RY, Ry, ry, ry 2.) Where 1 gamete = 1/4 (.25) of 4 gametes 3.) RY Ry ry ry X RY Ry ry ry 4.) Complete the punnett square of: RY Ry ry ry X RY Ry ry ry 5.) Phenotypic and Genotypic Ratios: Yellow round = 3/4 X 3/4 = 9/16 9 Yellow wrinkled = 3/4 X 1/4 = 3/16 3 Green round = 1/4 X 3/4 = 3/16 3 Green wrinkled = 1/4 X 1/4 = 1/16 1 Sponge Answer 4
5 Two-Trait Crosses Dihybrid Cross Two-trait crosses - genotypes of parents require four letters because allelic pairs for two traits Any two phenotypes (law of segregation), segregates the traits together for up to 16 possibilities Gametes contain one letter of each in all combinations Dihybrid reproduces with a dihybrid the results are 9 : 3 : 3 : 1 Consider a mating between the following: Male parent homozygous dominant for widows peak and short finger length with a female parent homozygous recessive for strait hair line and long finger length Further consider a mating between a male F1 progeny to a female just like his mother Two-trait Cross Sponge Question In humans, black hair is dominant to blond hair AND brown eyes is dominant to blue eyes AND dark skin pigment is dominant to light skin pigmentation You are a family genetics counselor. A couple comes to you and asks you some questions. They want to know the following: 1. What are their odds of having a child with dark skin, brown eyes and brown hair? 2. What are their odds of having a BOY with dark skin, brown eyes and brown hair? The male parent has black hair, brown eyes and dark skin and the female parent has brown hair, green eyes and somewhat dark skin. 1. Please advise the couple by giving them phenotypic and genotypic ratios of their F1 progeny? 2. Show them your data by supplying either a punnett square OR a forked-line diagram Sponge Answer Part I BB=Black Hair, Bb=Brown Hair bb=blond Hair EE=Brown Eyes, Ee=Green Eyes, ee=blue eyes SS=Dark Skin, Ss=Somewhat Dark Skin ss=light skin 1. Male Parent has black hair, brown eyes and dark skin - (BBEESS) 2. Female Parent has brown hair, green eyes and somewhat dark skin - (BbEeSs) Sponge Answer Part II There is a 12.5% chance of having a child that has brown hair, brown eyes and dark skin. If they had a boy there would be an 1/16 or 6% chance of having just a boy with these characteristics 5
6 Genetic Disorders Patterns of Inheritance When studying human disorders, biologists often construct pedigree charts to show the pattern of inheritance of a characteristic within a family. The particular pattern indicates the manner in which a characteristic is inherited. Pedigrees Pedigree charts represent males as squares and females as circles. Recessive and dominant alleles have different patterns of inheritance. Genetic counselors construct pedigree charts to determine the mode of inheritance of a condition. Autosomal Recessive Pedigree Complete Dominant Pedigree 6
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