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Mendel and the process of science Mendels principles of inheritance Crosses: Parental, F1, F2, and test Chromosome mapping Variations on Mendelian inheritance In-breeding and out-breeding
What Did Mendel Show? Breeders knew of hybrids at the time that Mendel started his
experiments (in 1856), but only knew that progeny resembled each parent, and that some resembled grandparents. No one knew why. Mendel developed a systematic way of understanding heredity, using very good scientific technique. He applied the scientific method combined with mathematical analysis to demonstrate: 1. Unit characteristics 2. Segregation of those characteristics 3. Dominance of some characteristics 4. Independent assortment of characteristics
A Parental Cross
Homozygous Tall (TT) X Homozygous Short (tt)
dominance
itself.
Mendel showed that the short plant bred true, so it was a parental type. That a parental phenotype disappeared and then reappeared destroys the concept of blending. It was masked in the F1 Instead, it supports the concept of unit
Segregation of Characteristics
Mendel recognized that the only way to achieve the masking of the characteristics was to segregate (separate) them somehow in the gametes. The characters must have been separated during formation of the pollen (male) and the ova (female). This is the concept of segregation.
Mendel worked in a strictly conceptual framework he had NO IDEA of the nature of the genetic material Today we know his characters are the products of genes. The collection of genes is the genotype, or genome. A gene is positioned at a given locus (loci, plural). Position is very important, it can define the effect of a gene Regulation of genes is position-dependent.
Alleles
Different varieties of genes are called alleles. Since diploid (2n) organisms have 2 sets of chromosomes, there are two possible alleles for each gene locus in a 2n organism. If those alleles are the same, the organism is homozygous at that location If different, it is heterozygous
Diploid cells
A Test Cross
What if you only know that you have a black and a brown guinea pig (i.e. you dont know the genotype)? Do a test cross Cross with a known truebreeding recessive brown guinea pig
On inspection, heterozygotes are indistinguishable from homozygote dominants. Phenotypes can be tested for genotype with test crosses Test crosses are easily checked w/ Punnett squares. Always cross the unknown into homozygous recessive to reveal the dominant genotype. The distribution of alleles follows the product law and the sum law.
a Aa Aa
a A a Aa aa
a Aa aa
A phenotype; a phenotype
Mapping Chromosomes
If there is 8% crossover between A & C, 5% crossover between A & B, and 3% between B and C, we can arrange them in this manner (a): If the crossover between A and C was 2% instead of 8%, we could rearrange as in (b).
Incomplete Dominance
Inbreeding
Inbreeding was useful to Mendel for producing true-breeders But it can concentrate undesirable attributes, which are often recessive. Human inbreeding tends to increase the frequency of rare genetic disorders, although the Tamil of India extensively intermarry with little or no ill effect. Australian sheepdogs must be euthanized if they are white puppies: they become blind, deaf, and have many skeletal muscle problems The English bulldog has significant bone structure problems many members of this breed can barely mate and bear puppies, and many have difficulty breathing
Outbreeding means breeding of different strains or stocks of the same organism Breeding to different strains tends to produce more robust individuals, referred to as hybrid
Outbreeding
vigor
Produces individuals that are multiply heterozygous at many loci Masks recessives in many different traits In many cases, multiple heterozygosis seems to confer additional advantage beyond the masking of recessive traits. This is referred to as over dominance or the Heterozygote Advantage. Most modern grain crops are multiple hybrids: they are more resistant to disease, tolerate changes in weather, etc. A simple example: Sickle Cell Anemia People heterozygous for sickle-cell anemia have a distinct advantage in Africa, where the trait improves resistance to malaria by interfering with the parasite life cycle. The moderate illness due to the heterozygote sickle cell condition is not severely disabling.