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Patterns of
Inheritance

    How genes interact and are
      influenced to produce
           different traits.
Review - Simple Mendelian Genetics

   Dominant gene
    covers other allele
    •   Ss or SS genotype
        yields smooth coat


   Recessive gene is
    only expressed
    when dominant
    allele is not
    inherited
    •   ss genotype
        yields long coat
Lethal Allele Combinations
   The yellow fur color allele is
    dominant (Y)
     •   however, it's only expressed in
         heterozygous Yy mice

   Homozygous dominant (YY)
    mice never appear (they die
    before birth)
   Homozygous recessive (yy)
    mice are white
   Even though the fur color Y is
    dominant, the lethal allele is
    considered recessive because
    it only appears in the
    homozygous YY genotype.
Incomplete Dominance

    Heterozygotes (CRCW) express
     an intermediate phenotype
     (pink)

    Instead of overpowering one
     another, both traits are
     partially expressed

    Flower color traits separate
     again during meiosis and can
     be seen in the F2 generation
Codominance
   The inheritance of ABO      •   Two alleles are dominant
    blood groups demonstrates        •   Type A and Type B

    codominant inheritance           •   (Type O is recessive)
                                •   Both phenotypes are
                                    expressed in the
                                    heterozygote (Type AB)
Codominance

                      B = black
       X              W = white




               What would the
               genotype of each
               of these chickens
               have to be?
Multiple Alleles
   The ABO blood type is an example of a trait that has more
    than just two different alleles (A, B, and O)
   Most genes have multiple alleles (different forms of the same gene)
    •   hair, eye, and fur color genes all have many different alleles
    •   multiple alleles usually exhibit some sort of incomplete dominance
Polygenic Traits
   The control of a trait by more
    than one gene
    •   Skin color is controlled by at
        least 6 genes
   Each gene product is
    additive to the others
   The hallmark of a polygenic
    trait's phenotype expression
    is:
    •   A bell curve distribution
    •   A continuous distribution
The Human Genome Project
   In the 1950's, scientists
    were first able to view a
    set of human
    chromosomes
   In 2003, scientists
    finished mapping the
    human genome
   Now every gene of
    each human
    chromosome is know
    by location and trait
Human Karyotype:   23 homologous
pairs
Sex Chromosomes
   The X and Y chromosomes determines gender




X + Y = BOY                           X + X = GIRL
 The mother always donates an X chromosome.
  Why?
 The father gives either an X (female) or a Y (male).
Sex-Linked Recessive Inheritance
   The pattern of
    inheritance still follows
    Mendel's predictions
   Genes found on the
    X chromosome:
    •   Hemophilia
    •   Color blindness
   Males are more often
    affected than females
    because they inherit
    only one X chromosome
Pedigree
   Pedigrees help track
    the appearance of
    one trait (or disease)
    •   Very useful for
        determining the
        type of inheritance




Does the whirling trait
  appear to be sex-linked?

Are there multiple alleles for
   the whirling trait?
Is it recessive or dominant?
Multiple Alleles
Autosomal Dominant Inheritance
   Genes on non-sex chromosomes are autosomes
    •   Huntington’s disease is an autosomal dominant trait
    •   It only take one copy of the Huntington gene to have the disease
   Some individuals in every generation are affected
    regardless of gender

    This pedigree
 shows the affected
 individuals of each
   generation as a
black circle or square
Autosomal Recessive
Environmental Influences
   Genes are often influenced by
    environmental factors
    •   leaf & stem size is dictated by genes, but
        also affected by sunlight
    •   black fur color genes can be "turned on"
        by changes in temperature
    •   conditions such as baldness can be
        triggered by hormones (internal environment)
          • both men and women
            inherit baldness genes,
            but the gene is only expressed
               when exposed to high levels of
            testosterone
Different levels of hormones affect the thickness and length of
                                                    horns in bighorn sheep, even though their genotype is identical.




Diet, exercise, and other environmental factors have been
proven to influence the expression of genes causing
heart disease, diabetes and other serious illnesses.


 Exposure to chemicals during
 pregnancy and early infancy can
 trigger severe genetic abnormalities.
Abnormal Chromosome Number




   many miscarriages      this zygote has 3
                            copies of a
    are the result of       chromosome instead
    extra or missing        of 2
    chromosomes due        instead of a
    to nondisjunction       homologous pair,
                            there is a trisomy
Trisomy 13   - also known as Patau's
Syndrome




                             An individual with full
                             trisomy 13 at age 7 years
                             (survival beyond the first
                             year is uncommon).
                             He is deaf and legally blind
Trisomy 21 - (Down Syndrome)

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Patterns of Inheritance

  • 1. Patterns of Inheritance How genes interact and are influenced to produce different traits.
  • 2. Review - Simple Mendelian Genetics  Dominant gene covers other allele • Ss or SS genotype yields smooth coat  Recessive gene is only expressed when dominant allele is not inherited • ss genotype yields long coat
  • 3. Lethal Allele Combinations  The yellow fur color allele is dominant (Y) • however, it's only expressed in heterozygous Yy mice  Homozygous dominant (YY) mice never appear (they die before birth)  Homozygous recessive (yy) mice are white  Even though the fur color Y is dominant, the lethal allele is considered recessive because it only appears in the homozygous YY genotype.
  • 4. Incomplete Dominance  Heterozygotes (CRCW) express an intermediate phenotype (pink)  Instead of overpowering one another, both traits are partially expressed  Flower color traits separate again during meiosis and can be seen in the F2 generation
  • 5. Codominance  The inheritance of ABO • Two alleles are dominant blood groups demonstrates • Type A and Type B codominant inheritance • (Type O is recessive) • Both phenotypes are expressed in the heterozygote (Type AB)
  • 6. Codominance  B = black X  W = white  What would the genotype of each of these chickens have to be?
  • 7. Multiple Alleles  The ABO blood type is an example of a trait that has more than just two different alleles (A, B, and O)  Most genes have multiple alleles (different forms of the same gene) • hair, eye, and fur color genes all have many different alleles • multiple alleles usually exhibit some sort of incomplete dominance
  • 8. Polygenic Traits  The control of a trait by more than one gene • Skin color is controlled by at least 6 genes  Each gene product is additive to the others  The hallmark of a polygenic trait's phenotype expression is: • A bell curve distribution • A continuous distribution
  • 9. The Human Genome Project  In the 1950's, scientists were first able to view a set of human chromosomes  In 2003, scientists finished mapping the human genome  Now every gene of each human chromosome is know by location and trait
  • 10. Human Karyotype: 23 homologous pairs
  • 11. Sex Chromosomes  The X and Y chromosomes determines gender X + Y = BOY X + X = GIRL  The mother always donates an X chromosome. Why?  The father gives either an X (female) or a Y (male).
  • 12. Sex-Linked Recessive Inheritance  The pattern of inheritance still follows Mendel's predictions  Genes found on the X chromosome: • Hemophilia • Color blindness  Males are more often affected than females because they inherit only one X chromosome
  • 13. Pedigree  Pedigrees help track the appearance of one trait (or disease) • Very useful for determining the type of inheritance Does the whirling trait appear to be sex-linked? Are there multiple alleles for the whirling trait? Is it recessive or dominant?
  • 14.
  • 16. Autosomal Dominant Inheritance  Genes on non-sex chromosomes are autosomes • Huntington’s disease is an autosomal dominant trait • It only take one copy of the Huntington gene to have the disease  Some individuals in every generation are affected regardless of gender This pedigree shows the affected individuals of each generation as a black circle or square
  • 18. Environmental Influences  Genes are often influenced by environmental factors • leaf & stem size is dictated by genes, but also affected by sunlight • black fur color genes can be "turned on" by changes in temperature • conditions such as baldness can be triggered by hormones (internal environment) • both men and women inherit baldness genes, but the gene is only expressed when exposed to high levels of testosterone
  • 19. Different levels of hormones affect the thickness and length of horns in bighorn sheep, even though their genotype is identical. Diet, exercise, and other environmental factors have been proven to influence the expression of genes causing heart disease, diabetes and other serious illnesses. Exposure to chemicals during pregnancy and early infancy can trigger severe genetic abnormalities.
  • 20. Abnormal Chromosome Number  many miscarriages  this zygote has 3 copies of a are the result of chromosome instead extra or missing of 2 chromosomes due  instead of a to nondisjunction homologous pair, there is a trisomy
  • 21. Trisomy 13 - also known as Patau's Syndrome An individual with full trisomy 13 at age 7 years (survival beyond the first year is uncommon). He is deaf and legally blind
  • 22. Trisomy 21 - (Down Syndrome)

Editor's Notes

  1. If Adam and Eve did not have all three blood type alleles, then there must have been a mutation creating the O allele while the human race was still very small and before humans dispersed across the globe. Whether the origin of blood type O was in Adam and Eve at Creation or whether it arose as a mutational event that took place shortly before or after the Flood, it strongly supports that all humans today are descendants of two individuals or a small group of people that eventually populated the globe. Both scenarios are consistent with the biblical model of human origins.
  2. Chickens also display codominance in their feather color. Instead of gray feathers from a black/white hybrid, both black AND white feathers are expressed.
  3. Probable # of genes responsible is around 40! additive = not clearly dominant/recessive, and not equally codominant either, but each gene contributes a degree of pigment that combines to produce a variety (or full spectrum) of skin color
  4. Each gene of every human chromosome is now know by location and trait.
  5. So who determine's a baby's sex? The Father!
  6. sex-linked recessive trait
  7. multiple incomplete dominant alleles
  8. Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers and/or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year. Trisomy 13 occurs in about 1 in 16,000 newborns. Although women of any age can have a child with trisomy 13, the chance of having a child with this condition increases as a woman gets older.
  9. Down syndrome is a genetic disorder that includes a combination of birth defects, including some degree of mental retardation, characteristic facial features and, often, heart defects, visual and hearing impairment, and other health problems. The severity of all of these problems varies greatly among affected individuals. Down syndrome is one of the most common genetic birth defects, affecting approximately one in 800 to 1,000 babies. In this country, there are more than 350,000 individuals with Down syndrome, according to the National Down Syndrome Society. Life expectancy among adults with Down syndrome is about 55 years, though average lifespan varies.   The name "Down syndrome" comes from the physician, Dr. Langdon Down, who first described the collection of findings in 1866. It was not until 1959 that the cause of Down syndrome (the presence of an extra #21 chromosome) was identified.