human pedigrees drawing and analysis. genetic counseling helping individuals and prospective parents...
TRANSCRIPT
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Human PedigreesDrawing and Analysis
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Genetic Counseling
• Helping individuals and prospective parents
• Your learning gives you the opportunity to determine some probabilities and patterns of inheritance yourself!
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PedigreesA pedigree is a biological family tree
that shows the interrelationships between parents and children across generations. Helps illustrate a pattern of
inheritance for a single trait through that family
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Standard Symbols in Pedigrees
Male Unspecified Gender
Female
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Standard Symbols in Pedigrees
Clinically Unaffected
Clinically Affected
Carrier
Not Clinically Affected
Some pedigrees show phenotype only (no half-shaded boxes; some show genotype (carriers are half-shaded) You will need to determine which system is used in each problem.
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Conventions in Drawing Pedigrees
Male partner on left (usually)
Parents
Regardless of Social Relationship
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Conventions in Drawing Pedigrees
Full Siblings
(in order of age from left to right)
I
II
1 2
1 2 3
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Conventions in Drawing Pedigrees
Dizygotic Twins Monozygotic Twins
I
II
1 2
1 2 3 4
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Conventions in Drawing Pedigrees
Adopted
Consanguinity
Separated
I
II
1 2 3
1 2 3
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Conventions summary
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Patterns of Inheritance• Dominant:
– Trait is expressed in every generation – eg. Huntington’s, brown eyes
– Not seen in offspring unless present in a parent• Recessive:
– Trait may skip generations – eg. TaySachs• Sex-Linked:
– Y linked – only males are clinically affected– X linked – affected males more common, may
have normal parents, affected females must have affected father
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autosomal dominant
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Pedigree Practice
A) Autosomal dominant
B) Autosomal recessive
C) X-linked recessive
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Pedigree Practice (more rare)
D) X-linked dominant
E) Y-linked
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Pedigree Practice
Cardiomyopathy (hypertrophy)
Autosomal dominant
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Pedigree Practice
Warped ear
Autosomal recessive
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Pedigree Practice
Neurofibromatosis
Autosomal dominant
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Pedigree practice
Hemophilia
X-linked recessive