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- Before the 20th century, 2 concepts were the basis for ideas
about heredity:
- -heredity occurs within species
- -traits are transmitted directly from parent to offspring
- This led to the belief that inheritance is a matter of blending traits
from the parents.
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- Botanists in the 18th and 19th centuries produced
hybrid plants.
- When the hybrids were crossed with each other, some of the offspring
resembled the original strains, rather than the hybrid strains.
- This evidence contradicted the idea that traits are directly passed from
parent to offspring.
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- 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
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- Mendel’s experimental method:
- 1. produce true-breeding strains for each trait he was studying
- 2. cross-fertilize true-breeding strains having alternate forms of a
trait
- -perform reciprocal crosses as well
- 3. allow the hybrid offspring to self-fertilize and count the number of
offspring showing each form of the trait
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- Monohybrid cross: a cross to study only 2 variations of a single trait
- Mendel produced true-breeding pea strains for 7 different traits
- -each trait had 2 alternate forms (variations)
- -Mendel cross-fertilized the 2 true-breeding strains for each trait
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- F1 generation (1st filial generation): offspring
produced by crossing 2 true-breeding strains
- For every trait Mendel studied, all F1 plants resembled only
1 parent
- -no plants with characteristics intermediate between the 2 parents were
produced
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- F1 generation: offspring resulting from a cross of
true-breeding parents
- F2 generation: offspring resulting from the
self-fertilization of F1 plants
- dominant: the form of each trait expressed in the F1 plants
- recessive: the form of the trait not seen in the F1 plants
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- F2 plants exhibited both forms of the trait in a very
specific pattern:
- ¾ plants with the dominant form
- ¼ plant with the recessive form
- The dominant to recessive ratio was 3 : 1.
- Mendel discovered the ratio is actually:
- 1 true-breeding dominant plant
- 2 not-true-breeding dominant plants
- 1 true-breeding recessive plant
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- gene: information for a trait passed from parent to offspring
- alleles: alternate forms of a gene
- homozygous: having 2 of the same allele
- heterozygous: having 2 different alleles
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- genotype: total set of alleles of an individual
- PP = homozygous dominant
- Pp = heterozygous
- pp = homozygous recessive
- phenotype: outward appearance of an individual
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- Principle of Segregation
- Two alleles for a gene segregate during gamete formation and are
rejoined at random, one from each parent, during fertilization.
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- Some human traits are controlled by a single gene.
- -some of these exhibit dominant inheritance
- -some of these exhibit recessive inheritance
- Pedigree analysis is used to track inheritance patterns in families.
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- Dihybrid cross: examination of 2 separate traits in a single cross
- -for example: RR YY x rryy
- The F1 generation of a dihybrid cross (RrYy) shows only the
dominant phenotypes for each trait.
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- The F2 generation is produced by crossing members of the F1
generation with each other or allowing self-fertilization of the F1.
- -for example RrYy x
RrYy
- The F2 generation shows all four possible phenotypes in a set
ratio:
- 9 : 3 : 3 : 1
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- Principle of Independent Assortment
- In a dihybrid cross, the alleles of each gene assort independently.
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- Rule of addition: the probability of 2 mutually exclusive events
occurring simultaneously is the sum of their individual probabilities.
- When crossing Pp x Pp, the probability of producing Pp offspring is
- probability of obtaining Pp (1/4), PLUS
- probability of obtaining pP (1/4)
- ¼ + ¼
= ½
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- Rule of multiplication: the probability of 2 independent events
occurring simultaneously is the PRODUCT of their individual
probabilities.
- When crossing Rr Yy x RrYy, the probability of obtaining rr
yy offspring is:
- probability of obtaiing rr = ¼
- probability of obtaining yy = ¼
- probability of rr yy = ¼ x ¼
= 1/16
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- Testcross: a cross used to determine the genotype of an individual with
dominant phenotype
- -cross the individual with unknown genotype (e.g. P_) with a homozygous
recessive (pp)
- -the phenotypic ratios among offspring are different, depending on the
genotype of the unknown parent
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- Mendel’s model of inheritance assumes that:
- -each trait is controlled by a single gene
- -each gene has only 2 alleles
- -there is a clear dominant-recessive relationship between the alleles
- Most genes do not meet these criteria.
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- 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.
- For example – human height
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- Pleiotropy refers to an allele which has more than one effect on the
phenotype.
- This can be seen in human diseases such as cystic fibrosis or sickle
cell anemia.
- In these diseases, multiple symptoms can be traced back to one defective
allele.
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- Incomplete dominance: the heterozygote is intermediate in phenotype
between the 2 homozygotes.
- Codominance: the heterozygote shows some aspect of the phenotypes of
both homozygotes.
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- The human ABO blood group system demonstrates:
- -multiple alleles: there are 3 alleles of the I gene (IA, IB,
and i)
- -codominance: IA and IB are dominant to i but
codominant to each other
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- The expression of some genes can be influenced by the environment.
- for example: coat color in Himalayan rabbits and Siamese cats
- -an allele produces an enzyme that allows pigment production only at
temperatures below 30oC
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- The products of some genes interact with each other and influence the
phenotype of the individual.
- Epistasis: one gene can interfere with the expression of another gene
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