pedigrees woof. the royal hemophiliacs last class we brought up hemophilia, a disease where the...
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PedigreesWoof Woof
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The Royal HemophiliacsLast class we brought up hemophilia, a disease
where the blood doesn’t clot normally
A famous case occurred in the Royal family
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How can we trace the inheritance and predict who will be
affected?
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Another example: Race Horses
Horse Racing is HUGE industry with lots of money at stake
Owners want to invest in a horse that will win. They will pay big money to get a horse born from a ‘winning’ dam and sire.
How can you followthe mating of several horses to determinewhich horses will make a prize-winning foal?
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A Pedigree is a chart that traces the inheritance of a trait amongst members of a family
It shows ancestry, and is often usedto look at the inheritance of a particulartrait, often a disease
It is used to breed plants and animalsto optimize ‘good traits’ and lose ‘bad’traits
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The Basics of a PedigreeEach person is represented by a symbol
Birth order is from left to right (oldest youngest)
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How are we related?
I 1 2
II 1 2 3 4 5 6 7 8
III 1 2 3 4 5 6 7 8 9
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4 Main types of InheritanceAutosomal Dominant
Autosomal Recessive
Sex-Linked Dominant
Sex Linked Recessive
Also, holandric (Y-linked), and diseases can be sporadic (not genetic)
But how can we use a pedigree to figure out inheritance?
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How can we use a pedigree to understand
inheritanceUse our knowledge of genetics and Punnett
Squares
i.e What is the genotype of II-1if he expresses an autosomalrecessive disorder for the gene‘r’?
What are his parents genotypes?
What possible genotypes doeshis sister have?
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If I-2 is a carrier for male pattern baldness, what do we expect to be the phenotype of her children?
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Determining GenotypeWhat are the genotypes of all the individuals
listed if the mutation for colourblindness is inherited in a sex-linked recessive manner?
XbY
XbY
XBXB
XBXb
XBY XBY XBY
XBY
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Patterns of Inheritance
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Autosomal Dominant
Affected individuals have one affected allele and one normal allele
Each offspring has a 50% chance of inheriting the mutant gene
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Autosomal Recessive
Affected only when have TWO copies of the mutant gene
1 mutant copy/1 normal = carrier
Females and males are equally affected
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Autosomal Recessive
When 2 carriers mate:
25% homozygous unaffected,
50% carriers, 25% affected
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X-Linked Recessive
All females who have it are carriers but look normal
All males who have it are affected
No father to son transmission but if a father is affected, his daughter will be a carrier
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X-linked Dominant
No father to son transmission
All of an affected man’s daughters will be affected
50% of an affected woman’s children will be affected
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What mode of inheritance?
Autosomal Dominant!
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Assemble and interpret the pedigrees
Each table group is given a sheet that outlines some of the individuals in a family
Draw a proper pedigree on chart paper
Determine the mode of inheritance
Determine the phenotype/genotype of several individuals
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Your Pedigree must have:Generation numbers
Individual numbers
Affected/Deceased/Carriers are marked
For this example, I also want you to include the genotype of each person once you figure out the mode of inheritance