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GENETICS
Gregor Mendel’s Discoveries
Complex Inheritance
Patterns of Inheritance
• Gregor Mendel: 1843 - Augustinian monastery.
• University of Vienna - 1851 to 1853
• Experimentation in causes of variation in plants.
• 1857 - breeding garden peas to study inheritance.
• Many varieties, distinct heritable features (characters) with different variants (traits).
• Mendel brought an experimental and quantitative approach to genetics.
Gregor Mendel
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
• Hybrids
• The true-breeding parents - P generation
• hybrid offspring - F1 generation.
• Pollinate F1 hybrids - F2 generation.
• law of segregation
• law of independent assortment.
Law of segregation - the two alleles for a characteristics are
packaged into separate gametes
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
• 705 purple-flowered F2 plants• 224 white-flowered F2 • 3-1 ratio
• Dominant• Recessive
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Table 14.1
Mendel’s hypothesis to explain the results.
1. Alternative version of genes (different alleles) account for variations in inherited characters.
• Different alleles vary somewhat in the sequence of nucleotides at the specific locus of a gene.
• The purple-flower allele and white-flower allele are two DNA variations at the flower-color locus.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Fig. 14.3
2. For each character, an organism inherits two alleles, one from each parent.• A diploid organism inherits one set of
chromosomes from each parent. - Each diploid organism has a pair of homologous chromosomes (two copies of each).
• These homologous loci may be identical, homozygous for that character (PP or pp)
• Alternatively, the two alleles may differ, heterozygous for that character (Pp).
• Ex. - a plant can inherit a purple-flower allele from one parent and a white-flower allele from the other.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
3. If two alleles differ,
• The dominant allele, is fully expressed in the the organism’s appearance.
• The other, the recessive allele, has no noticeable effect on the organism’s appearance.
4. The two alleles for each character segregate (separate) during gamete production. (law of segregation)
• Distribution of homologous chromosomes to gametes in meiosis.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Review Questions
• Define P, F1, F2 generation.
• What does Mendel’s law of segregation state?
• What are the four parts of Mendel’s law of segregation?
• Define Homozygous and Heterozygous. What is another way to say homozygous?
• Define Dominant and Recessive
Punnett square
Fig. 14.4
•Predicts the outcome of a cross between two organisms.
•law of segregation - 3:1 ratio in F2 generation.
• F1 - two gametes:
• 1/2 purple-flower allele
• 1/2 white-flower allele
• gametes unite randomly
• four combinations
• Some vocab:
• description of traits - phenotype.
• The words that describe the character (Purple or White)
• genetic makeup - genotype.
• The letters we assign to the character (PP or Pp or pp)
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
• For flower color in peas, both PP and Pp plants have the same phenotype (purple) but different genotypes (homozygous and heterozygous).
• The only way to produce a white phenotype is to be homozygous recessive (pp) for the flower-color gene.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Fig. 14.5
Test Cross
• It is not possible to predict the genotype of an organism with a dominant phenotype.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
• Dominance does not mean more common in a population.
• Polydactyly is due to an allele dominant to the recessive allele for five digits per appendage.
• The recessive allele is far more prevalent than the dominant allele in the population.
• 399 individuals out of 400 have five digits per appendage.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
• Single character cross - monohybrid cross.
• Two different characters - dihybrid cross.
• Mendel crossed true-breeding plants that had yellow, round seeds (YYRR) with true-breeding plants that has green, wrinkled seeds (yyrr).
• The allele for yellow seeds (Y) is dominant to the allele for green seeds (y).
• The allele for round seeds (R) is dominant to the allele for wrinkled seeds (r).
Law of independent assortment
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
• two characters are not transmitted from parents to offspring as a package.• The Y and R alleles and y and r alleles do
not stay together.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
• Two pairs of alleles segregate independently of each other.
• The presence of one specific allele for one trait has no impact on the presence of a specific allele for the second trait.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
• Four distinct phenotypes in a 9:3:3:1 ratio.
• law of independent assortment - alleles must be on different chromosomes
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Fig. 15.1
• Mendel used traits that were classified as complete dominance.• Each character (but one) is controlled by a
single gene.
• Each gene has only two alleles, one of which is completely dominant to the other.
Complete Dominance (recap)
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Check in?
• Define Genotype and Phenotype
• What do we use a Punnett square for?
• Define Mendel’s Law of Independent Assortment
Beyond Mendel• We know that the relationship between
genotype and phenotype is rarely as simple as dominant and recessive.
• Mendel was never able to prove these…
• Incomplete dominance
• Codominance
• Multiple Alleles
• Polygenic inheritance
• Sex-linked traits
• Heterozygotes show a distinct phenotype, not seen in homozygotes.
• The dominant trait is notcompletely dominant overthe recessive.
• Result is a mixed phenotype.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Incomplete Dominance
Codominance
• Two alleles affect the phenotype in separate, distinguishable ways.
• There are two dominant alleles that both contribute to phenotype.
• MN blood groups - due to the presence of two specific molecules on the surface of red blood cells.
• (genotype MM) have one type of molecule on their red blood cells, (genotype NN) have the other type, MN (genotype MN) have both molecules.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Multiple Alleles (and codominance)• There are more than 2 alleles that
contribute to genotype.
• The ABO blood groups in humans are determined by three alleles, IA, IB, and i.
• Both the IA and IB alleles are DOMINANT to the i allele
• The IA and IB alleles are codominant to each other.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
• Because each individual carries two alleles, there are six possible genotypes and four possible blood types.
RBC Surface Antigens
• Antigens are proteins found on the surface of a cell
Rh Factor with blood typing
• What about the + and – blood types?
• Rh factor is what determines the + or – blood typing.
• Alleles= Rh+ and Rh-
Stop and Review
• A woman with type A+, whose dad was O-, has a child with a man who is AB-. What are the potential blood types of their child
• A cat with a long tail is crossed with a cat who has a short tail. All of their offspring have medium length tails. Why? What alleles would you use?
Polygenic Inheritance• Additive effects of two
or more genes on a single phenotypic character.
• skin color in humans.
• An AABBCC individual is
dark and aabbcc is light.
• AaBbCc X AaBbCc
(intermediate skin shades)
produce offspring with a
range of shades.Fig. 14.12
• In addition to their role in determining sex, the sex chromosomes, especially the X chromosome, have genes for many characters.
• These traits typically follow the complete dominance principles discussed previously, but are linked to the X chromosome, as shown below.
• Men are affected more often by a sex linked trait.
Sex-linked traits
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
• Duchenne muscular dystrophy
• Absence of normal X-linked gene for a key muscle protein, called dystrophin.
• Progressive weakening of the muscles and loss of coordination.
• Hemophilia - absence of one or more clotting factors.
• Normal proteins slow and stop bleeding.
• Individuals with hemophilia have prolonged bleeding because a firm clot forms slowly.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Pedigree analysis reveals Mendelian patterns in human inheritance
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
heterozygotes are carriers - may transmit a recessive allele to their offspring, but do not suffer from the disease.
Recap and review?
• Distinguish between Incomplete dominance and Codominance.
• What are the three different alleles for human blood typing. How many geneotypes can be made with these alleles?
• Define Polygenic Inheritance.
• Why are men more susceptible to a sex-linked disease?
• What is a pedigree used for?