Pedigree Analysis
Why do pedigree analysis?
Problems with human genetics
• human generation span = 20-
30 years
• parents produce fewer
offspring
• breeding experiments are
unacceptable
Solution
• analyze results of matings that
have already occurred
• collect history for a trait and
assemble information into a
family tree  pedigree
• can help in predicting the
traits of future offspring
Pedigree symbols

Pedigree of a family afflicted with

neurofibromatosis,
an autosomal dominant genetic
disorder
Inheritance patterns in pedigrees
1. autosomal dominant
2. autosomal recessive
3. x-linked dominant
4. x-linked recessive
5. y-linked
Autosomal Dominant Inheritance Pattern
Due to a dominant gene on an autosome
Characteristics:
1. males and females are equally affected
2. every affected individual has at least one affected parent
3. affected individuals mating with unaffected individuals have at
least a 50% chance of transmitting the trait to each child
4. two affected individuals may have unaffected children
5. phenotype generally appears every generation
Examples: achrondoplasia, Huntington’s disease, widow’s peak,
dimples, free lobes, tongue-rolling, brachydactyly,
hypercholesterolemia
Autosomal Recessive Inheritance Pattern
Due to a recessive gene on an autosome
Characteristics:
1. males and females are equally affected
2. affected individual may have unaffected parents
3. all children of two affected individuals are affected
4. phenotype may skip a generation
Examples: cystic fibrosis, phenylketonuria, galactosemia, albinism,
hemophilia, sickle-cell anemia, Tay-Sachs disease
X-linked Dominant** Inheritance Pattern
Due to a dominant allele on the x-chromosome
Characteristics:
1. trait is never passed from father to son
2. all daughters of an affected male and a normal female are affected
3. all sons of an affected male and a normal female are normal
4. females are more likely to be affected than males
Examples: hypophosphatemia, Aicardi syndrome, fragile X syndrome
**Some X-linked dominant diseases are lethal for males
X-linked Recessive Inheritance Pattern
Due to a recessive allele on the x-chromosome
Characteristics:
1. trait is never passed from father to son
2. Males more likely to be affected than females.
3. trait or disease typically passed from an affected grandfather,
through carrier daughters, to half of his grandsons
Examples: red and green colorblindness, hemophilia, Duchenne muscular
dystrophy, Hunter syndrome
Y-linked Inheritance Pattern
• Due to an allele on the y-chromosome
• Characteristic: when a male is affected, all of his male
children are affected
• Examples: male infertility and hypertrichosis pinnae
Identify the inheritance pattern for the following
pedigrees and write the possible genotypes of each
individual.

1.

2.
3.

4.
Identify the inheritance pattern for the following
pedigrees and write the possible genotypes of each
individual.