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Lesson 11: Patterns of Inheritance April 8, 2015 1 Terms • Allele – variations of a gene – Brown eyes vs. Blue eyes • Homozygous – diploid cell containing two identical alleles for any one gene (both Brown eyes or Blue eyes) • Heterozygous – diploid cell containing two different alleles for any one gene (Brown eyes gene and Blue eyes gene) 2 Gregor Mendel • Chose to study pea plants because: 1.Other research showed that pea hybrids could be produced 2.Many pea varieties were available 3.Peas are small plants and easy to grow 4.Peas can self-fertilize or be cross-fertilized 3 4 Experimental Method 1.Produce true-breeding (homozygous) strains for each trait he was studying 2.Cross-fertilized true-breeding strains having alternate forms of a trait – Also perform reciprocal crosses 3.Allowed the hybrid offspring to self-fertilize for several generations and count the number of offspring showing each form of the trait 5 6 Monohybrid Crosses • Cross to study only 2 variations of a single trait • Mendel produced true-breeding pea strains for 7 different traits – Each trait had 2 variants 7 8 F1 Generation • F1 = First Filial Generation • Offspring produced by crossing 2 truebreeding strains of differing phenotype • For every trait Mendel studied, all F1 plants resembled only 1 parent – Referred to this trait as dominant – Alternative trait was recessive • No plants with characteristics intermediate between the 2 parents were produced 9 F2 Generation • Second filial generation • Offspring resulting from the selffertilization of F1 plants • Although hidden in the F1 generation, the recessive trait had reappeared among some F2 offspring • Counted proportions of traits – 3:1 ratio (phenotypic ratio) 10 11 3:1 is 1:2:1 • F2 plants – ¾ plants with the dominant form – ¼ plants with the recessive form – The dominant to recessive ratio was 3:1 • Mendel discovered the ratio is actually: – 1 true-breeding dominant plant (homozygous) – 2 not-true-breeding dominant plants (heterozygous) – 1 true-breeding recessive plant (homozygous) 12 13 Conclusions • His plants did not show intermediate traits – Each trait is intact, discrete • For each pair, one trait was dominant, the other recessive • Alternative traits were expressed in the F2 generation in the ratio of ¾ dominant to ¼ recessive 14 Five Element Model of Heredity 1. Parents transmit discrete factors (genes) 2. Each individual receives one copy of a gene (an allele) from each parent 3. Not all copies of a gene are identical – Allele – alternative form of a gene – Homozygous – 2 of the same allele – Heterozygous – different alleles 15 4. Alleles remain discrete – no blending 5. Presence of allele does not guarantee expression – Dominant allele – expressed – Recessive allele – hidden by dominant allele • Genotype – total set of alleles an individual contains • Phenotype – physical appearance 16 Principle of Segregation • Two alleles for a gene segregate during gamete formation (meiosis) and are rejoined at random, one from each parent, during fertilization • Physical basis for allele segregation is the behavior of homologous chromosomes during Anaphase I of Meiosis • Mendel had no knowledge of chromosomes or meiosis – had not yet 17 been described Punnett Squares • Cross purple-flowered plant with white-flowered plant • P is dominant allele – purple flowers • p is recessive allele – white flowers • True-breeding white-flowered plant is pp – Homozygous recessive • True-breeding purple-flowered plant is PP – Homozygous dominant • Pp is heterozygote purple-flowered plant 18 19 Dihybrid Crosses • Examination of 2 separate traits in a single cross • RR YY x rryy (doubly homozygous) – R-round; r-wrinkled; Y-yellow; y-green • The F1 generation of a dihybrid cross (RrYy) shows only the dominant phenotypes of each trait • Allow F1 to self-fertilize to produce F2 20 • F1 generation – RrYy x RrYy (genotype) – All offspring appear Round and Yellow (phenotype) • The F2 generation – 9:3:3:1 (phenotype) – 9 Round yellow:3 round green:3 wrinkled yellow:1 wrinkled green 21 22 23 Polygenic Inheritance • Occurs when multiple genes are involved in controlling the phenotype of a trait • The phenotype is an accumulation of contributions by multiple genes • These traits show continuous variation and are referred to as quantitative traits – Ex. Human Height 24 Pleiotropy • Refers to an allele which has more than one effect on the phenotype • Pleiotropic effects are difficult to predict, because a gene that affects one trait often performs other, unknown functions • This can be seen in human diseases such as cystic fibrosis or sickle cell anemia – Multiple symptoms can be traced back to one defective allele 25 • Incomplete Dominance – Heterozygote is intermediate phenotype between the 2 homozygotes – Red flowers x white flowers = pink flowers • Codominance – Heterozygote shows some aspect of the phenotypes of both homozygotes – Type AB blood 26