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Mendelian Inheritance
Chapter 11
2Mendelian IMendelian Inheritancenheritance
OutlineOutline
Blending InheritanceBlending Inheritance
Monohybrid CrossMonohybrid Cross
Law of SegregationLaw of Segregation
Modern GeneticsModern Genetics
Genotype vs. PhenotypeGenotype vs. Phenotype
Punnett SquarePunnett Square
Dihybrid CrossDihybrid Cross
Law of Independent AssortmentLaw of Independent Assortment
Human Genetic DisordersHuman Genetic Disorders
3Mendelian IMendelian Inheritancenheritance
Gregor MendelGregor Mendel
Austrian monkAustrian monkStudied science and mathematics at Studied science and mathematics at University of ViennaUniversity of Vienna
Conducted breeding experiments with the Conducted breeding experiments with the garden pea garden pea Pisum sativumPisum sativum
Carefully gathered and documented Carefully gathered and documented mathematical data from his experimentsmathematical data from his experiments
Formulated fundamental laws of heredity in Formulated fundamental laws of heredity in early 1860searly 1860sHad no knowledge of cells or chromosomesHad no knowledge of cells or chromosomesDid not have a microscopeDid not have a microscope
4Gregor Mendel
5Fruit and Flower of the
Garden Pea
6Garden Pea TraitsStudied by
Mendel
7Mendelian IMendelian Inheritancenheritance
Blending InheritanceBlending Inheritance
Theories of inheritance in Mendel’s time:Theories of inheritance in Mendel’s time:
Based on blendingBased on blending
Parents of contrasting appearance produce Parents of contrasting appearance produce offspring of intermediate appearanceoffspring of intermediate appearance
Mendel’s findings were in contrast with thisMendel’s findings were in contrast with this
He formulated the particulate theory of He formulated the particulate theory of inheritanceinheritance
Inheritance involves reshuffling of genes from Inheritance involves reshuffling of genes from generation to generationgeneration to generation
8Mendelian IMendelian Inheritancenheritance
One-Trait InheritanceOne-Trait Inheritance
Mendel performed cross-breeding Mendel performed cross-breeding experimentsexperiments
Used “true-breeding” (homozygous) plantsUsed “true-breeding” (homozygous) plants
Chose varieties that differed in only one trait Chose varieties that differed in only one trait (monohybrid cross)(monohybrid cross)
Performed reciprocal crossesPerformed reciprocal crosses
Parental generation = PParental generation = P
First filial generation offspring = FFirst filial generation offspring = F11
Second filial generation offspring = FSecond filial generation offspring = F22
Formulated the Law of SegregationFormulated the Law of Segregation
9Mendel’s Monohybrid Crosses:An Example
10Mendelian IMendelian Inheritancenheritance
Law of SegregationLaw of Segregation
Each individual has a pair of factors (alleles) Each individual has a pair of factors (alleles) for each traitfor each trait
The factors (alleles) segregate (separate) The factors (alleles) segregate (separate) during gamete (sperm & egg) formationduring gamete (sperm & egg) formation
Each gamete contains only one factor (allele) Each gamete contains only one factor (allele) from each pairfrom each pair
Fertilization gives the offspring two factors Fertilization gives the offspring two factors for each traitfor each trait
11Mendelian IMendelian Inheritancenheritance
Modern Genetics ViewModern Genetics View
Each trait in a pea plant is controlled by two Each trait in a pea plant is controlled by two alleles (alternate forms of a gene)alleles (alternate forms of a gene)
Dominant allele (capital letter) masks the Dominant allele (capital letter) masks the expression of the recessive allele (lower-expression of the recessive allele (lower-case)case)
Alleles occur on a homologous pair of Alleles occur on a homologous pair of chromosomes at a particular gene locuschromosomes at a particular gene locus
Homozygous = identical allelesHomozygous = identical alleles
Heterozygous = different allelesHeterozygous = different alleles
12Homologous Chromosomes
13Mendelian IMendelian Inheritancenheritance
Genotype Versus PhenotypeGenotype Versus Phenotype
Genotype Genotype
Refers to the two alleles an individual has for Refers to the two alleles an individual has for a specific traita specific trait
If identical, genotype is homozygousIf identical, genotype is homozygous
If different, genotype is heterozygousIf different, genotype is heterozygous
Phenotype Phenotype
Refers to the physical appearance of the Refers to the physical appearance of the individualindividual
14Mendelian IMendelian Inheritancenheritance
Punnett SquarePunnett Square
Table listing all possible genotypes resulting Table listing all possible genotypes resulting from a crossfrom a cross
All possible sperm genotypes are lined up on All possible sperm genotypes are lined up on one sideone side
All possible egg genotypes are lined up on the All possible egg genotypes are lined up on the other sideother side
Every possible zygote genotypes are placed Every possible zygote genotypes are placed within the squareswithin the squares
15Punnett Square ShowingEarlobe Inheritance
Patterns
16Mendelian IMendelian Inheritancenheritance
Monohybrid TestcrossMonohybrid Testcross
Individuals with recessive phenotype always Individuals with recessive phenotype always have the homozygous recessive genotypehave the homozygous recessive genotype
However, Individuals with dominant However, Individuals with dominant phenotype have indeterminate genotypephenotype have indeterminate genotype
May be homozygous dominant, orMay be homozygous dominant, or
HeterozygousHeterozygous
Test cross determines genotype of individual Test cross determines genotype of individual having dominant phenotypehaving dominant phenotype
17One-Trait Test CrossUnknown is
Heterozygous
18One-Trait Test CrossUnknown is Homozygous
Dominant
19Mendelian IMendelian Inheritancenheritance
Two-Trait InheritanceTwo-Trait Inheritance
Dihybrid cross uses true-breeding plants Dihybrid cross uses true-breeding plants differing in two traitsdiffering in two traits
Observed phenotypes among FObserved phenotypes among F22 plants plants
Formulated Law of Independent AssortmentFormulated Law of Independent Assortment
The pair of factors for one trait segregate The pair of factors for one trait segregate independently of the factors for other traitsindependently of the factors for other traits
All possible combinations of factors can occur All possible combinations of factors can occur in the gametesin the gametes
20Two-Trait (Dihybrid) Cross
21Two-Trait Test Cross
22Mendelian IMendelian Inheritancenheritance
Human Genetic DisordersHuman Genetic Disorders
Autosome - Any chromosome other than a sex Autosome - Any chromosome other than a sex chromosomechromosome
Genetic disorders caused by genes on autosomes Genetic disorders caused by genes on autosomes are called autosomal disorders are called autosomal disorders Some genetic disorders are autosomal dominantSome genetic disorders are autosomal dominant An individual with AA has the disorderAn individual with AA has the disorder An individual with Aa has the disorderAn individual with Aa has the disorder An individual with aa does NOT have disorderAn individual with aa does NOT have disorder
Other genetic disorders are autosomal recessiveOther genetic disorders are autosomal recessive An individual with AA does NOT have disorderAn individual with AA does NOT have disorder An individual with Aa does NOT have disorder, but is a An individual with Aa does NOT have disorder, but is a
carriercarrier An individual with aa DOES have the disorderAn individual with aa DOES have the disorder
23Autosomal Recessive Pedigree Chart
24Autosomal Dominant Pedigree Chart
25Mendelian IMendelian Inheritancenheritance
Autosomal Recessive DisordersAutosomal Recessive Disorders
Tay-Sachs DiseaseTay-Sachs Disease
Progressive deterioration of psychomotor Progressive deterioration of psychomotor functionsfunctions
Cystic FibrosisCystic Fibrosis
Mucus in bronchial tubes and pancreatic Mucus in bronchial tubes and pancreatic ducts is particularly thick and viscousducts is particularly thick and viscous
Phenylketonuria (PKU)Phenylketonuria (PKU)
Lack enzyme for normal metabolism of Lack enzyme for normal metabolism of phenylalaninephenylalanine
26Cystic Fibrosis Therapy
27Mendelian IMendelian Inheritancenheritance
Autosomal Dominant DisordersAutosomal Dominant Disorders
NeurofibromatosisNeurofibromatosis
Tan or dark spots develop on skin and darken Tan or dark spots develop on skin and darken
Small, benign tumors may arise from fibrous Small, benign tumors may arise from fibrous nerve coveringsnerve coverings
Huntington DiseaseHuntington Disease
Neurological disorderNeurological disorder
Progressive degeneration of brain cellsProgressive degeneration of brain cells
Severe muscle spasmsSevere muscle spasms
Personality disordersPersonality disorders
28A Victim of Huntington Disease
29Huntington Disease:Normal and Diseased
Brain
30Mendelian IMendelian Inheritancenheritance
Incomplete DominanceIncomplete Dominance
Heterozygote has phenotype intermediate Heterozygote has phenotype intermediate between that of either homozygotebetween that of either homozygote
Homozygous red has red phenotypeHomozygous red has red phenotype
Homozygous white has white phenotypeHomozygous white has white phenotype
Heterozygote has pink (intermediate) Heterozygote has pink (intermediate) phenotypephenotype
Phenotype reveals genotype without test Phenotype reveals genotype without test crosscross
31Incomplete Dominance
32Mendelian IMendelian Inheritancenheritance
Multiple Allelic TraitsMultiple Allelic Traits
Some traits controlled by multiple allelesSome traits controlled by multiple alleles
The gene exists in several allelic forms (but each individual The gene exists in several allelic forms (but each individual only has two)only has two)
ABO blood typesABO blood types
The alleles:The alleles: IIAA = A antigen on red cells, anti-B antibody in plasma = A antigen on red cells, anti-B antibody in plasma IIBB = B antigen on red cells, anti-AB antibody in plasma = B antigen on red cells, anti-AB antibody in plasma II = Neither A nor B antigens, both antibodies = Neither A nor B antigens, both antibodies
PhenotypePhenotype(Blood Type)(Blood Type) GenotypeGenotype
A (actually AA or AO)A (actually AA or AO) IIAAIIAA or I or IAAiiB (actually BB or BO)B (actually BB or BO) IIBBIIBB or I or IBBii
ABAB IIAAIIBB
O (actually OO)O (actually OO) iiii
33Inheritance of Blood Type
34Mendelian IMendelian Inheritancenheritance
Polygenic InheritancePolygenic Inheritance
Occurs when a trait is governed by two or Occurs when a trait is governed by two or more genes having different allelesmore genes having different alleles
Each dominant allele has a quantitative effect Each dominant allele has a quantitative effect on the phenotypeon the phenotype
These effects are additiveThese effects are additive
Result in continuous variation of phenotypesResult in continuous variation of phenotypes
35Height in Human Beings
36Frequency Distributions in
Polygenic Inheritance
37Mendelian IMendelian Inheritancenheritance
TerminologyTerminology
PleiotropyPleiotropyA gene that affects more than one A gene that affects more than one characteristic of an individualcharacteristic of an individual
Sickle-cell (incomplete dominance)Sickle-cell (incomplete dominance)
CodominanceCodominanceMore than one allele is fully expressedMore than one allele is fully expressedABO blood type (multiple allelic traits)ABO blood type (multiple allelic traits)
EpistasisEpistasisA gene at one locus interferes with the A gene at one locus interferes with the expression of a gene at a different locusexpression of a gene at a different locus
Human skin color (polygenic inheritance)Human skin color (polygenic inheritance)
38Environment and Phenotype:
Himalayan Rabbits
39Mendelian IMendelian Inheritancenheritance
ReviewReview
Blending InheritanceBlending Inheritance
Monohybrid CrossMonohybrid Cross
Law of SegregationLaw of Segregation
Modern GeneticsModern Genetics
Genotype vs. PhenotypeGenotype vs. Phenotype
Punnett SquarePunnett Square
Dihybrid CrossDihybrid Cross
Law of Independent AssortmentLaw of Independent Assortment
Human Genetic DisordersHuman Genetic Disorders
Mendelian Inheritance
Ending Slide Chapter 11