Introduction to Genetics and Patterns
of Inheritance
4 Basic Patterns of Human Inheritance
REVIEW Recall the definition of the Review Vocabulary term.
VOCABULARY
genes segments of DNA that control the production of proteins
genes
NEW VOCABULARY Use your book to define each vocabulary term.
carrier
carrier an individual heterozygous for a recessive genetic disorder
pedigree
pedigree a diagram of genetic inheritance used by geneticists to trace
genetic traits
Explain why pedigrees are needed to identify the carriers of a
recessive trait in a family.
Pedigrees are necessary to find carriers because the recessive traits
are not readily apparent by looking at the phenotype.
Get It? Explain how symbols are used to represent individuals in a
pedigree.
Squares and circles are used to represent individuals. Lines are used to
indicate relationships among individuals. Roman numerals are used to
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indicate generations.
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4 Basic Patterns of Human Inheritance (continued)
Summarize pedigree symbols by naming them and then
drawing them in the right-hand column of the table. Sketches should
resemble those in the book.
Description of Sketch of
Symbol symbol
male square
female circle
affected male shaded square
affected female shaded circle
known heterozygotes half–shaded symbol
parents and offspring line down, from parent circles
siblings or squares on second row
parents circle joined to square
Evaluate the inheritance of achondroplasia, a dominant disorder,
which is shown in the pedigree.
Parent with achondroplasia: the father
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Number of children with achondroplasia: one
Genotype of the younger son: homozygous recessive
Get It? Analyze What can be determined about the genotypes of
the parents of an individual who expresses a recessive trait?
Each parent of an individual who expresses a recessive trait must have at
least one allele for the recessive trait.
Science Notebook • Introduction to Genetics and Patterns of Inheritance
140
4 Basic Patterns of Human Inheritance (continued)
Write three facts about recessive heredity in the concept map.
Accept all reasonable responses.
Simple Recessive Heredity
Who: What:
Dr. Garrod identified Diseases caused
that alkaptonuria was a by recessive mutations
recessive genetic include cystic fibrosis,
disorder. Tay-Sachs disease, and
albinism.
How:
For an offspring to
inherit a recessive trait,
each parent must have
at least one recessive
allele.
Identify two examples of dominant genetic disorders in humans.
Accept all reasonable responses.
Huntington's disease
dominant genetic disorders
achondroplasia
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Get It? Compare the chances of inheriting a dominant disorder to
the chances of inheriting a recessive disorder if you have one parent
with the disease.
Recessive: 50% chance if parent without the disease is heterozygous,
0% chance if parent without the disease is homozygous dominant.
Dominant: 50% chance if the parent with the disease is heterozygous,
100% chance if the parent with the disease is homozygous dominant.
CONNECT
Create a pedigree diagram for an imaginary family. Pick a trait and designate it as dominant,
then shade the boxes to show who has recessive genes, who has dominant genes, and who is
likely heterozygous. Accept all reasonable responses.
Science Notebook • Introduction to Genetics and Patterns of Inheritance
141
4 Basic Patterns of Human Inheritance (continued)
CHECK YOUR PROGRESS
1. Construct a family pedigree of two unaffected parents with a child who suffers from
cystic fibrosis.
The pedigree should show both parents as carriers (half-filled symbols) and the child infected with
the disorder (a filled symbol).
2. Explain the type of inheritance associated with Huntington’s disease and
achondroplasia.
dominant
3. Interpret Can two parents with albinism have an unaffected child? Explain.
Since albinism is recessive, the only type of offspring albino parents can have are albinos.
4. Diagram Suppose one parent is heterozygous for a dominant disorder and the
other parent is homozygous normal. Draw a pedigree showing these parents and
three possible offspring.
Diagrams should correctly depict the two parents and show three offspring, who can be shown
as heterozygous for the disorder or homozygous normal.
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5. Phenylketonuria (PKU) is a recessive genetic disorder. If both parents are carriers,
what is the probability of this couple having a child with PKU? What is the chance of
this couple having two children with PKU?
_
1 ; _
( 1 _
) 1 × _
1
4 16 4 4
6. Determine What questions might a doctor ask a couple that requests tests for the
cystic fibrosis gene?
Answers may vary but might include: Why does the couple want to test for the cystic fibrosis
gene? Is there a history of cystic fibrosis in either family?
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