Chapter 10 Notes Patterns of Inheritance, Part 1

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1 Chapter 10 Notes Patterns of Inheritance, Part 1 I. Gregor Mendel ( ) a. Austrian monk with a scientific background b. Conducted numerous hybridization experiments with the garden pea, Pisum sativum, to determine the laws of inheritance i. Performed crosses between individual plants that differed in some trait 1. Examples of traits: stem length (tall, short); seed shape (round, wrinkled); flower color (purple, white) ii. True-breeding parents (the P generation) were crossed to create the first filial offspring (the F1 generation). 1. For example, Mendel crossed a parent with purple petals with a parent having white petals % of the F1 generation expressed only one of the traits. In our example, 100% of the F1 generation had purple petals. iii. Two F1 individuals were crossed to create the second filial offspring (the F2 generation) 1. In our example, the F2 offspring was comprised of 75% with purple petals, 25% with white petals. 2. Thus, the white petal trait did not disappear in the F1 generation; instead, it was masked by the purple petal trait. The F1 individuals still possessed some factor for white petals that was passed on to the F2 generation. 3. Mendel saw this pattern in other traits as well. Because one trait seemed to be preferred over the other in each case, Mendel described some traits as being dominant over others, which he called recessive. II. Mendel s Law of Segregation a. Mendel deduced a particulate theory of inheritance. He hypothesized that parents were passing some kind of physical particle of information on to offspring. i. We now know that these particles are genes sequences of DNA that code for specific proteins. b. Mendel described his law of segregation as follows: i. Each individual has two factors for each trait. 1. We now know that these factors are alleles the different forms of a gene that occur on the chromosomes at particular locations called the gene locus. In our example of petal color above we would describe this one gene (flower color) as having two alleles (one for purple and one for white). ii. The factors segregate (separate) during the formation of the gametes. 1. We now know that this is the separation of homologous chromosomes that occurs during meiosis 1. iii. Each gamete contains only one factor from each pair of factors. 1. This is what it means to be haploid. In our example above, the F1 individuals created gametes that either carried a chromosome with the purple allele or the

2 III. white allele. Each gamete has only one of each chromosome (haploid), and thus only one allele to offer the offspring. iv. Fertilization gives each new individual two factors for each trait. 1. The joining of a haploid sperm cell and a haploid egg cell creates a diploid zygote. Determining the probability of different outcomes of a one-trait cross a. Genotype vs Phenotype i. An individual s genotype is the specific combination of alleles they possess. 1. We typically use a single letter to signify a gene. A dominant allele is represented by an upper-case letter and a recessive allele is represented by a lower-case letter. a. In our flower color example, a capital P would represent the dominant allele that codes for purple petal color while a lower-case p would represent the recessive allele that codes for white petal color. 2. Recall that meiosis begins with a diploid cell, meaning that there are two of each chromosome in the nucleus. This means that there are two alleles for each gene, one on each chromosome. a. If the two alleles are identical we say the genotype is homozygous; however we need more information i. If both alleles are dominant, then we say the genotype is homozygous dominant. In our flower color example, this would mean both alleles code for purple color and we would symbolize the genotype as PP. ii. If both alleles are recessive, then we say the genotype is homozygous recessive. In our flower color example, this would mean both alleles code for white color and we would symbolize the genotype as pp. b. If the two alleles are different, then we say the genotype is heterozygous. i. In our flower color example, this would mean one allele is dominant and one allele is recessive and we would symbolize the genotype as Pp. ii. An individual s phenotype is the physical appearance of the trait due to the genotype. 1. If a dominant allele is present, the trait it codes for will be the one expressed. a. In our flower color example, both the homozygous dominant genotype and the heterozygous genotype will result in a purple-colored flower because in both cases there is at least one dominant allele present. 2. A recessive phenotype can only be expressed if the individual is homozygous recessive. b. A Punnett square is used to display all the possible genetic outcomes of a cross between two individuals. i. The diploid cell that goes through meiosis will have its two homologous chromosomes, and thus its two alleles for each gene, separated into single gametes.

3 1. In our flower color example, if a plant is heterozygous it will create some gametes that have the dominant allele (P) and some gametes that will have the recessive allele (p). Only one of these gametes will be involved with fertilization and contribute to the genotype of the offspring. ii. We can determine all of the genetic outcomes on a Punnett square by placing the possible gametes from one parent across the top, and the possible gametes from the other parent down the side. 1. For example, suppose we cross two plants that have a heterozygous genotype for the flower color gene: Pp X Pp 2. Each of the four boxes represents the genotype formed from the combination of one gamete from one parent and one from the other. 3. When two heterozygotes are crossed as above, all genotypes are possible in the resulting offspring. a. Each of the four boxes represents a 25% chance of occurring. Thus: i. there is a 25% probability of the offspring having a homozygous dominant (PP) genotype ii. there is a 50% probability of the offspring having a heterozygous (Pp) genotype iii. there is a 25% probability of the offspring having a homozygous recessive (pp) genotype b. A cross between two heterozygotes results in characteristic ratios: i. A genotype ratio of 1:2:1 (homozygous dominant : heterozygous : homozygous recessive) ii. A phenotype ratio of 3:1 (dominant (purple) : recessive (white)) iii. This explains how two purple-flowered parents can give rise to offspring with white flowers.

4 IV. Two-trait Inheritance: The Law of Independent Assortment a. Instead of just one trait, consider two traits simultaneously. The genes for these two traits are on two different, non-homologous chromosomes i. For example, in addition to flower color, let s also consider another gene for stem length with alleles for tall stems (dominant, T) and short stems (recessive, t). b. Mendel s Law of Independent Assortment states that: i. Each pair of factors segregates (assorts) independently of the other pairs ii. All possible combinations of factors can occur in the gametes c. Consider an individual who is heterozygous for both of these traits (flower color and stem length). We can visualize the chromosomes lining up during metaphase 1 (of meiosis 1) inside the cell as follows: d. If we separate the homologous chromosomes (meiosis 1) and then separate the sister chromatids (meiosis 2), we would end up with the following four gametes: If they assorted in this way, two different kinds of gametes could be formed: those possessing a dominant allele for both traits (the two cells on the left having both P and T) and those possessing a recessive allele for both traits (the two cells on the right having both p and t). e. Now imagine that the chromosomes lined up in a different way during metaphase 1 (compare to part c above): Notice how this pair of chromosomes has lined up so that the recessive alleles will now go to the left instead of to the right as in c above.

5 f. If we separate the homologous chromosomes (meiosis 1) and then separate the sister chromatids (meiosis 2), we would end up with the following four gametes: If they assorted in this way, another two kinds of gametes could be formed: those possessing a dominant color allele (P) and a recessive length allele (t); and those possessing a recessive color allele (p) and a dominant length allele (T) g. Because either of these scenarios are possible, an individual that is heterozygous for both traits can produce four possible gametes: PT, Pt, pt, or pt. h. A cross between two individuals who are both heterozygous for both traits is called a dihybrid cross: PpTt X PpTt i. A much larger Punnett square is needed to determine all the possible outcomes. Since each parent can produce four different gametes, this would be a 4X4 Punnett square. j. The characteristic phenotype ratio for a dihybrid cross is 9:3:3:1. Using our flower color and stem length example: i. dominant color, dominant length = 9 (purple, tall) ii. dominant color, recessive length = 3 (purple, short) iii. recessive color, dominant length = 3 (white, tall) iv. recessive color, recessive length = 1 (white, short)

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