1. Biology, 9th ed,Sylvia Mader
Chapter 11
Chapter 11
Mendelian Inheritance
Mendelian Inheritance

2. Human Genetic Disorders
Outline
Blending Inheritance
Monohybrid Cross
Law of Segregation
Modern Genetics
Genotype vs. Phenotype
Punnett Square
Dihybrid Cross
Law of Independent Assortment
Human Genetic Disorders

3. Gregor Mendel Austrian monk
Studied science and mathematics at University of Vienna
Conducted breeding experiments with the garden pea Pisum sativum
Carefully gathered and documented mathematical data from his experiments
Formulated fundamental laws of heredity in early 1860s
Had no knowledge of cells or chromosomes
Did not have a microscope

4. Gregor Mendel

5. Fruit and Flower of the Garden Pea

6. Garden Pea Traits Studied by Mendel

7. Theories of inheritance in Mendel’s time:
Blending Inheritance
Theories of inheritance in Mendel’s time:
Based on blending: parents of contrasting appearance produce offspring of mixed appearance
Mendel’s findings were in contrast with this
He formulated the particulate theory of inheritance
Inheritance involves reshuffling of genes from generation to generation

8. One-Trait Inheritance
Mendel performed cross-breeding experiments
Used “true-breeding” (homozygous) plants
Chose varieties that differed in only one trait (monohybrid cross)
Performed reciprocal crosses
Parental generation = P
First filial generation offspring = F1
Second filial generation offspring = F2
Formulated the Law of Segregation

9. Mendel’s Monohybrid Crosses: An Example

10. Law of Segregation
Each individual has a pair of factors (alleles) for each trait The factors (alleles) segregate (separate) during gamete (sperm & egg) formation Each gamete contains only one factor (allele) from each pair Fertilization gives the offspring two factors for each trait

11. Modern Genetics View
Each trait in a pea plant is controlled by two alleles (alternate forms of a gene)
Dominant allele (capital letter) masks the expression of the recessive allele (lower-case)
Alleles occur on a homologous pair of chromosomes at a particular gene locus
Homozygous = identical alleles
Heterozygous = different alleles

12. Homologous Chromosomes

13. Genotype Versus Phenotype
Refers to the two alleles an individual has for a specific trait
If identical, genotype is homozygous
If different, genotype is heterozygous
Phenotype
Refers to the physical appearance of the individual

14. Table listing all possible genotypes resulting from a cross
Punnett Square
Table listing all possible genotypes resulting from a cross
All possible sperm genotypes are lined up on one side
All possible egg genotypes are lined up on the other side
Every possible zygote genotypes are placed within the squares

15. Punnett Square Showing Earlobe Inheritance Patterns

16. Monohybrid Testcross
Individuals with recessive phenotype always have the homozygous recessive genotype
However, Individuals with dominant phenotype have indeterminate genotype
May be homozygous dominant, or heterozygous
Test cross determines genotype of individual having dominant phenotype

17. One-Trait Test Cross Unknown is Heterozygous

18. One-Trait Test Cross Unknown is Homozygous Dominant

19. Two-Trait Inheritance
Dihybrid cross uses true-breeding plants differing in two traits
Observed phenotypes among F2 plants
Formulated Law of Independent Assortment
The pair of factors for one trait segregate independently of the factors for other traits
All possible combinations of factors can occur in the gametes

20. Two-Trait (Dihybrid) Cross

21. Two-Trait Test Cross

22. Human Genetic Disorders
Autosome - Any chromosome other than a sex chromosome
Genetic disorders caused by genes on autosomes are called autosomal disorders
Some genetic disorders are autosomal dominant
An individual with AA has the disorder
An individual with Aa has the disorder
An individual with aa does NOT have disorder
Other genetic disorders are autosomal recessive
An individual with AA does NOT have disorder
An individual with Aa does NOT have disorder, but is a carrier
An individual with aa DOES have the disorder

23. Autosomal Recessive Pedigree Chart

24. Autosomal Dominant Pedigree Chart

25. Incomplete Dominance
Heterozygote has phenotype intermediate between that of either homozygote
Homozygous red has red phenotype
Homozygous white has white phenotype
Heterozygote has pink (intermediate) phenotype
Phenotype reveals genotype without test cross

26. Incomplete Dominance

27. Multiple Allelic Traits
Some traits controlled by multiple alleles
The gene exists in several allelic forms (but each individual only has two)
ABO blood types
The alleles:
IA = A antigen on red cells, anti-B antibody in plasma
IB = B antigen on red cells, anti-AB antibody in plasma
I = Neither A nor B antigens, both antibodies
Phenotype (Blood Type)
Genotype
A (actually AA or AO)
IAIA or IAi
B (actually BB or BO)
IBIB or IBi AB
IAIB
O (actually OO) ii

28. Inheritance of Blood Type

29. Polygenic Inheritance
Occurs when a trait is governed by two or more genes having different alleles Each dominant allele has a quantitative effect on the phenotype; these effects are additive Result in continuous variation of phenotypes

30. Height in Human Beings

31. Frequency Distributions in Polygenic Inheritance

32. Terminology Pleiotropy
A gene that affects more than one characteristic of an individual
Sickle-cell (incomplete dominance)
Codominance
More than one allele is fully expressed
ABO blood type (multiple allelic traits)
Epistasis
A gene at one locus interferes with the expression of a gene at a different locus
Human skin color (polygenic inheritance)

33. Environment and Phenotype: Himalayan Rabbits

34. Review assignment p.201 Reviewing the chapter (#1-11)
p.202 Testing Yourself (#1-17)
DUE TUESDAY