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Polygenic Inheritance
Inherited traits that are controlled by two or
more genes
Examples in humans include:
 Height
 Skin color
 Eye color
 Intelligence
Polygenic traits tend to exhibit continuous
variation with respect to phenotypes in a
population.
Discontinuous Variation
Phenotypes usually
controlled by one
pair of genes -
single gene
inheritance
Has two distinct
phenotypic classes
that do not overlap
Continuous Variation
Phenotypes usually
controlled by two or
more pairs of genes
- polygenic
inheritance
Has many
phenotypic classes
that overlap
Continuous Variation
Characteristics of Polygenic Inheritance
Traits usually quantified by measurement
rather than counting.
Genes (2 or more) contribute to the
phenotype in a small but additive way.
Some, however, will make no contribution
to the phenotype.
Variation is analyzed in populations, not
individuals.
17465299.ppt
Additive Model for Polygenic Inheritance
Trait controlled by two or more genes
Dominant alleles make an equal
contribution to phenotype
Recessive alleles make no contribution
Genes controlling traits are not linked
 Example: 3 genes with two alleles
A, a, B, b, C, c
Additive Model for Polygenic Inheritance
Trait = Height
 Base height = 5 ft.
 Each dominant allele add 3 inches to base height
 Recessive alleles make no contribution
 Genes controlling traits are not linked
 Example: 3 genes with two alleles: A, a, B, b, C, c
What is the height for individuals:
 AAbbCc ?
 aaBbCc ?
 AABBCC ?
 aaBbcc ?
Additive Model for Polygenic Inheritance
Trait = Height
 Using same genetic information:
 What are the possible phenotypes (and their
probabilities) for children of the following parents?
 AABBCC X aabbcc
 AaBbCC X AaBBcc
 For Parents: AaBbCc X AabbCc
• How many children will be aaBbCC ?
• aaBBCc ?
• How many children will be 6’3” ?
• 5’3” ?
• 6’6” ?
No.# of genes vs. No.# of phenotypic classes
Two (2) pairs of genes
1. AABB
2. AABb or AaBB
3. AAbb or aaBB or AaBb
4. Aabb or aaBb
5. aabb
= 5 phenotypic Classes
Phenotypic Classes: 1 2 3 4 5
No.# of genes vs. No.# of phenotypic classes
3 pairs of genes
 AABBCC
 AABBCc etc.
 AABBcc etc.
 AABbcc etc.
 AAbbcc etc.
 Aabbcc etc.
 aabbcc
= 7 phenotypic Classes
1 2 3 4 5 6 7
No.# of genes vs. No.# of phenotypic classes
4 pairs of genes?
= 9 phenotypic Classes
Multifactorial Traits
Traits that result from the interaction of one
or more environmental factors and two or
more genes.
Complex Traits
Multifactorial traits in which the relative
contributions of environmental vs. genetic
factors are not well established.
 Examples: Cardiovascular disease, breast cancer,
bipolar affective disorder, cleft palate, dyslexia,
diabetes mellitus, hypertension, migraines, neural
tube defects, schizophrenia, seizure disorders,
intelligence
Studying
Multifactorial Traits
 How do genotypes and
environmental factors
interact? (hard to
predict in general
population)
 Family studies aid in
determining such
interaction (due to
known levels of genetic
relatedness)
Heritability
 Estimates the contribution of genotype on the
expressed phenotype
 Uses known level of genetic relatedness in
families and measured phenotypic variation
 Produces a value (H) that estimates the phenotypic
variability caused by genetic differences
 Example: H=96% for Fingerprint TRC
Twin vs. Adoption Studies
Can be used to estimate heritability
Identical Twins - separated at birth
 Share same genotype
 Do not share same environment
Adoptions (along with natural children)
 Share same environment
 Do not share same genotype
Threshold Model
 Used to explain discontinuous distribution of a
multifactorial trait (e.g. cleft palate, club foot)
cleft palate club foot
Threshold Model
Liability: distributed as a bell-shaped curve
(consistent with polygenic trait)
Liability: caused by number of genes (which
contribute in an additive fashion) and
environmental factors
Phenotypic expression
is achieved only if a
certain threshold is
reached
Frequency

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17465299.ppt

  • 1. Polygenic Inheritance Inherited traits that are controlled by two or more genes Examples in humans include:  Height  Skin color  Eye color  Intelligence Polygenic traits tend to exhibit continuous variation with respect to phenotypes in a population.
  • 2. Discontinuous Variation Phenotypes usually controlled by one pair of genes - single gene inheritance Has two distinct phenotypic classes that do not overlap
  • 3. Continuous Variation Phenotypes usually controlled by two or more pairs of genes - polygenic inheritance Has many phenotypic classes that overlap
  • 5. Characteristics of Polygenic Inheritance Traits usually quantified by measurement rather than counting. Genes (2 or more) contribute to the phenotype in a small but additive way. Some, however, will make no contribution to the phenotype. Variation is analyzed in populations, not individuals.
  • 7. Additive Model for Polygenic Inheritance Trait controlled by two or more genes Dominant alleles make an equal contribution to phenotype Recessive alleles make no contribution Genes controlling traits are not linked  Example: 3 genes with two alleles A, a, B, b, C, c
  • 8. Additive Model for Polygenic Inheritance Trait = Height  Base height = 5 ft.  Each dominant allele add 3 inches to base height  Recessive alleles make no contribution  Genes controlling traits are not linked  Example: 3 genes with two alleles: A, a, B, b, C, c What is the height for individuals:  AAbbCc ?  aaBbCc ?  AABBCC ?  aaBbcc ?
  • 9. Additive Model for Polygenic Inheritance Trait = Height  Using same genetic information:  What are the possible phenotypes (and their probabilities) for children of the following parents?  AABBCC X aabbcc  AaBbCC X AaBBcc  For Parents: AaBbCc X AabbCc • How many children will be aaBbCC ? • aaBBCc ? • How many children will be 6’3” ? • 5’3” ? • 6’6” ?
  • 10. No.# of genes vs. No.# of phenotypic classes Two (2) pairs of genes 1. AABB 2. AABb or AaBB 3. AAbb or aaBB or AaBb 4. Aabb or aaBb 5. aabb = 5 phenotypic Classes Phenotypic Classes: 1 2 3 4 5
  • 11. No.# of genes vs. No.# of phenotypic classes 3 pairs of genes  AABBCC  AABBCc etc.  AABBcc etc.  AABbcc etc.  AAbbcc etc.  Aabbcc etc.  aabbcc = 7 phenotypic Classes 1 2 3 4 5 6 7
  • 12. No.# of genes vs. No.# of phenotypic classes 4 pairs of genes? = 9 phenotypic Classes
  • 13. Multifactorial Traits Traits that result from the interaction of one or more environmental factors and two or more genes.
  • 14. Complex Traits Multifactorial traits in which the relative contributions of environmental vs. genetic factors are not well established.  Examples: Cardiovascular disease, breast cancer, bipolar affective disorder, cleft palate, dyslexia, diabetes mellitus, hypertension, migraines, neural tube defects, schizophrenia, seizure disorders, intelligence
  • 15. Studying Multifactorial Traits  How do genotypes and environmental factors interact? (hard to predict in general population)  Family studies aid in determining such interaction (due to known levels of genetic relatedness)
  • 16. Heritability  Estimates the contribution of genotype on the expressed phenotype  Uses known level of genetic relatedness in families and measured phenotypic variation  Produces a value (H) that estimates the phenotypic variability caused by genetic differences  Example: H=96% for Fingerprint TRC
  • 17. Twin vs. Adoption Studies Can be used to estimate heritability Identical Twins - separated at birth  Share same genotype  Do not share same environment Adoptions (along with natural children)  Share same environment  Do not share same genotype
  • 18. Threshold Model  Used to explain discontinuous distribution of a multifactorial trait (e.g. cleft palate, club foot) cleft palate club foot
  • 19. Threshold Model Liability: distributed as a bell-shaped curve (consistent with polygenic trait) Liability: caused by number of genes (which contribute in an additive fashion) and environmental factors Phenotypic expression is achieved only if a certain threshold is reached Frequency