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Chapter 6 Mendelian Genetics Basis of Genetics • Genetics is the study of inheritance. For thousands of years the exact nature of it had been debated. People thought inheritance was blended, much like mixing two cans of paint. Other people thought that different parts of parents fought on the microscopic level for dominance in the offspring. • Gregor Mendel, an Austrian monk discovered that inheritance was particulate. That is, each trait is determined by a gene from either the mother or the father, they didn’t mix. Genes • Genes are the segments of chromosomes which code for traits (1 gene for 1 trait). • Genes were discovered by Mendel, but it wasn’t until later that chromosomes were discovered. • Note: When Darwin published “On the Origin of Species” he thought that heredity was mixed. Later, Mendel’s work was the basis for the “NeoDarwinian Synthesis” which combined genetics and natural selection. GREGOR MENDEL Genes • Genes are controlled by alleles. Alleles are either dominant or recessive. • When two dominant alleles are in the genotype, the organism is homozygous dominant. When a dominant and a recessive allele are in the genotype, the organism is heterozygous. When two recessive alleles are in the genotype, the organism is homozygous recessive. Genes • Genes are represented by letters. The letter that is used is the first letter of the name of the condition that a homozygous recessive genotype would cause: i.e. hemophilia is represented by an H or h even though the condition isn’t present unless the genotype is hh. • A homozygous dominant’s genotype is HH, a heterozygous’s genotype is Hh, and a homozygous recessive’s is hh. Punnett Squares • Punnett squares are a tool we can use to determine the possible genotypes in the offspring of two sexually reproducing individuals. • When one trait is observed, it is called a monohybrid cross, for two traits, it is called a dihybrid cross, for three, trihybrid, etc. • To begin, take the genotypes of the organisms. There should be two alleles for a genetic trait. Then, put the father (or mother) above the square like columns (1 over each column). Then put the other parent’s to the left like rows. • Fill out the punnett square like a multiplication table. A punnett square in action! Analyzing a Punnett Square • After the square has been filled out, you can see the possible genotypes of the offspring. What the genotype is will determine what the phenotype is. • A phenotype is the outer expression of the genotype (with environmental constraints). • The phenotype is dominant if the genotype is homozygous dominant or heterozygous, and recessive if the genotype is homozygous recessive. • Each square represents a ¼ chance of the genotype occurring. Probabilities • The main goal of mendellian genetics is to determine the probability of a certain outcome between the mating of two individuals. • A probability shows which is more likely to occur. However, unlike the fraction of ¼ which each square represents, a probability is easier to do….just count up the number of squares with the same genotype. This will give you the genotypic ratio. For example: If there is one homozygous dominant square, two heterozygote squares, and one homozygous recessive squares, the probability is shown by a 1:2:1 ratio. Phenotypic Ratio • Just as the genotypic ratio can be determined, a phenotypic ratio can also be determined. Just take the squares as before: 1:2:1, then determine the phenotype of each numbers’ square. In this example, the phenotypic ratio is 3:1 (3 will express the dominant phenotype and 1 will show the recessive phenotype). Test Crosses • If the genotype of an organism is not known, it can be bred with a homozygous recessive individual. The offspring’s phenotype will allow someone to determine what the genotype was or possibly was. This is known as a test cross. • In this class you will not be required to fill one out, just know what it is. Prediction and People • Genetic rules (or Mendel’s Laws) apply equally to humans. • Many times doctors and family planners are interested to know about the history of recessive disorders in a family. They use a pedigree to analyze this. • The strength of pedigrees is that they can show recessive traits in the family, but the weakness is that most genetic experiments are usually done with hundreds of offspring, whereas humans might only have one or two children. • The end result is a probability of a certain genetic disorder occurring, so having kids can be a gamble genetically…..but the odds are still usually better than Vegas. Intermediate Inheritance • The phenotype doesn’t ALWAYS follow the previously given rules. There are three ways this happens: 1. Incomplete dominance-When two different alleles for the same trait combine, but neither “wins” expression over the other, the offspring have an intermediate phenotype (this is like blending, or mixing two cans of paint). 2. Codominance-Both alleles in the heterozygote express themselves FULLY…not blending, but both at once. Intermediate Inheritance 3. Polygenic traits-Traits that are controlled by more than one gene…hence polygenic (poly means many). Multiple Alleles • Many traits have more than two alleles in the population. An example of this is human blood type. • The phenotype of blood type is familiar to most people (A, B, AB, O), but the genotypes aren’t. • The genotypes of blood are IA, IB, and i. • When two IA are present, the blood type is A, similarly, blood type B occurs when two IB are together. O happens when two i are together. AB occurs when both IA and IB are together, making blood type an example of codominance as well. Pleiotropy and Environment • When a single gene affects more than one trait, this is an example of pleiotropy. • Some genes are inactive in different environments. A pigment might be shut off during winter that allows an animal to be camoflauged in the Springtime. • In chapter 8 you will learn more about the molecular reason why different genes are turned on or off at different times. • Remember!: Phenotype is the combination of the expressed genotype and the environmental constraints or input.