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Chapter Presentation
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Visual Concepts
Standardized Test Prep
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Chapter 12
Inheritance Patterns
and Human Genetics
Table of Contents
Section 1 Chromosomes and Inheritance
Section 2 Human Genetics
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Chapter 12
Section 1 Chromosomes
and Inheritance
Objectives
• Distinguish between sex chromosomes and autosomes.
• Explain the role of sex chromosomes in sex determination.
• Describe how an X- or Y-linked gene affects the inheritance of
traits.
• Explain the effect of crossing-over on the inheritance of genes
in linkage groups.
• Distinguish between chromosome mutations and gene
mutations.
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Chapter 12
Section 1 Chromosomes
and Inheritance
Chromosomes
• Genes reside on chromosomes.
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Chapter 12
Section 1 Chromosomes
and Inheritance
Chromosomes, continued
• Sex Chromosomes and Autosomes
– Sex chromosomes contain genes that determine
an organism’s sex (gender).
– The remaining chromosomes that are not directly
involved in determining the sex of an individual are
called autosomes.
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Chapter 12
Section 1 Chromosomes
and Inheritance
Karyotypes: Male and Female
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Chapter 12
Section 1 Chromosomes
and Inheritance
Chromosomes, continued
• Sex Determination
– In mammals, an individual carrying two X
chromosomes is female.
– An individual carrying an X and a Y chromosome
is male.
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Chapter 12
Section 1 Chromosomes
and Inheritance
Effects of Gene Location
• Sex-Linked Genes and Traits
– Genes found on the X chromosome are X-linked
genes.
– A sex-linked trait is a trait whose allele is located
on a sex chromosome.
– Because males have only one X chromosome, a
male who carries a recessive allele on the X
chromosome will exhibit the sex-linked trait.
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Chapter 12
Section 1 Chromosomes
and Inheritance
Effects of Gene Location, continued
• Linked Genes
– Pairs of genes that tend to be inherited together
are called linked genes.
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Chapter 12
Section 1 Chromosomes
and Inheritance
Effects of Gene Location, continued
• Chromosome Mapping
– The farther apart two genes are located on a
chromosome, the more likely a cross-over will
occur.
– Researchers use recombinant percentages to
construct chromosome maps showing relative
gene positions.
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Chapter 12
Section 1 Chromosomes
and Inheritance
Mutations
• Germ-cell mutations occur in gametes and can be
passed on to offspring.
• Somatic-cell mutations occur in body
cells and affect only the individual organism.
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Chapter 12
Section 1 Chromosomes
and Inheritance
Mutations, continued
• Chromosome Mutations
– Chromosome mutations are changes in the
structure of a chromosome or the loss or gain of
an entire chromosome.
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Chapter 12
Section 1 Chromosomes
and Inheritance
Chromosomal Mutations
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Chapter 12
Section 1 Chromosomes
and Inheritance
Mutations, continued
• Gene Mutations
– Gene mutations are changes in one or more of the
nucleotides in a gene.
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Chapter 12
Section 1 Chromosomes
and Inheritance
Gene Mutations
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Chapter 12
Section 2 Human Genetics
Objectives
• Analyze pedigrees to determine how genetic traits and
genetic disorders are inherited.
• Summarize the different patterns of inheritance seen in
genetic traits and genetic disorders.
• Explain the inheritance of ABO blood groups.
• Compare sex-linked traits with sex-influenced traits.
• Explain how geneticists can detect and treat genetic
disorders.
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Chapter 12
Section 2 Human Genetics
Inheritance of Traits
• Pedigrees
– Geneticists use pedigrees to trace diseases or
traits through families.
– Pedigrees are diagrams that reveal inheritance
patterns of genes.
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Chapter 12
Section 2 Human Genetics
Pedigree for Cystic Fibrosis
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Chapter 12
Section 2 Human Genetics
Some Important
Genetic
Disorders
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Chapter 12
Section 2 Human Genetics
Genetic Traits and Disorders
• Polygenic Inheritance
– Polygenic characters, such as skin color, are
controlled by two or more genes.
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Chapter 12
Section 2 Human Genetics
Genetic Traits and Disorders, continued
• Complex Characters
– Complex characters, such as polygenic traits,
are influenced by both genes and environment.
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Chapter 12
Section 2 Human Genetics
Genetic Traits and Disorders, continued
• Multiple Alleles
– Multiple-allele characters, such as ABO blood
groups, are controlled by three or more alleles of a
gene.
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Chapter 12
Section 2 Human Genetics
Comparing Single Allele, Multiple Allele,
and Polygenic Traits
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Chapter 12
Section 2 Human Genetics
Comparing Complete, Incomplete,
and Co-Dominance
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Chapter 12
Section 2 Human Genetics
Genetic Traits and Disorders, continued
• X-Linked Traits
– The gene for colorblindness, an X-linked recessive
gene, is found on the X chromosome.
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Chapter 12
Section 2 Human Genetics
Genetic Traits and Disorders, continued
• Sex-influenced Trait
– A sex-influenced trait, such as pattern baldness, is
expressed differently in men than in women even
if it is on an autosome and both sexes have the
same genotype.
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Chapter 12
Section 2 Human Genetics
Comparing X-Linked and Sex-Influenced Traits
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Chapter 12
Section 2 Human Genetics
Detecting Genetic Disease
• Genetic screening examines a person’s genetic
makeup and potential risks of passing disorders to
offspring.
• Amniocentesis and chorionic villi sampling help
physicians test a fetus for the presence of genetic
disorders.
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Chapter 12
Section 2 Human Genetics
Detecting Genetic Disease, continued
• Genetic Counseling
– Genetic counseling informs screened individuals
about problems that might affect their offspring.
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Chapter 12
Section 2 Human Genetics
Treating Genetic Disease
• Genetic disorders are treated in various ways.
• Among the treatments are symptom-relieving
treatments and symptom-prevention measures, such
as insulin injections for diabetes.
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Chapter 12
Section 2 Human Genetics
Genetic Disorder
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Chapter 12
Section 2 Human Genetics
Treating Genetic Disease, continued
• Gene Therapy
– In gene therapy, a defective gene is replaced with
a copy of a healthy gene.
– Somatic cell gene therapy alters only body cells.
– Germ cell gene therapy attempts to alter eggs or
sperm.
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Chapter 12
Standardized Test Prep
Multiple Choice
1. Which can a chromosomal map show?
A. the sex of the individual
B. the presence of mutant alleles
C. the positions of genes on a chromosome
D. whether a gene is autosomal or recessive
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Chapter 12
Standardized Test Prep
Multiple Choice, continued
1. Which can a chromosomal map show?
A. the sex of the individual
B. the presence of mutant alleles
C. the positions of genes on a chromosome
D. whether a gene is autosomal or recessive
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Chapter 12
Standardized Test Prep
Multiple Choice, continued
2. Which can result from the deletion of a single
nucleotide?
F. trisomy
G. a translocation
H. nondisjunction
J. a frameshift mutation
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Chapter 12
Standardized Test Prep
Multiple Choice, continued
2. Which can result from the deletion of a single
nucleotide?
F. trisomy
G. a translocation
H. nondisjunction
J. a frameshift mutation
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Chapter 12
Standardized Test Prep
Multiple Choice, continued
3. At the present time amniocentesis cannot reveal
which of the following?
A. eye color
B. genetic disease
C. sex of the fetus
D. chromosomal abnormalities
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Chapter 12
Standardized Test Prep
Multiple Choice, continued
3. At the present time amniocentesis cannot reveal
which of the following?
A. eye color
B. genetic disease
C. sex of the fetus
D. chromosomal abnormalities
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Chapter 12
Standardized Test Prep
Multiple Choice, continued
4. A geneticist working with the fruit fly Drosophila
melanogaster discovers a mutant phenotype that
appears only in males who are offspring of males of
the same phenotype. What does this information
suggest about the mutant phenotype?
F. The trait is X-linked.
G. The trait is Y-linked.
H. The trait is autosomal dominant.
J. The trait is autosomal recessive.
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Chapter 12
Standardized Test Prep
Multiple Choice, continued
4. A geneticist working with the fruit fly Drosophila
melanogaster discovers a mutant phenotype that
appears only in males who are offspring of males of
the same phenotype. What does this information
suggest about the mutant phenotype?
F. The trait is X-linked.
G. The trait is Y-linked.
H. The trait is autosomal dominant.
J. The trait is autosomal recessive.
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Chapter 12
Standardized Test Prep
Multiple Choice, continued
The table below shows
5. Which statement best
the genotypes and phenotypes of
explains why men and
pattern baldness.
women express the Bb
Use the table to answer the
genotype differently?
question that follows.
A. The trait is polygenic.
B. The trait has multiple
alleles.
C. Pattern baldness is a
sex-linked trait.
D. Pattern baldness is a
sex-influenced trait.
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Chapter 12
Standardized Test Prep
Multiple Choice, continued
The table below shows
5. Which statement best
the genotypes and phenotypes of
explains why men and
pattern baldness.
women express the Bb
Use the table to answer the
genotype differently?
question that follows.
A. The trait is polygenic.
B. The trait has multiple
alleles.
C. Pattern baldness is a
sex-linked trait.
D. Pattern baldness is a
sex-influenced trait.
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Chapter 12
Standardized Test Prep
Multiple Choice, continued
6. translocation : chromosome mutation :: substitution
F. gene mutation
G. point mutation
H. germ-cell mutation
J. somatic-cell mutation
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Chapter 12
Standardized Test Prep
Multiple Choice, continued
6. translocation : chromosome mutation :: substitution
F. gene mutation
G. point mutation
H. germ-cell mutation
J. somatic-cell mutation
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Chapter 12
Standardized Test Prep
Multiple Choice, continued
The image below is a
7. Which type of inheritance
pedigree showing the
pattern is associated with
inheritance of hemophilia in a
hemophilia?
family. Use the pedigree to
answer the question that
A. autosomal recessive
follows.
B. sex-linked dominant
C. sex-linked recessive
D. autosomal dominant
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Chapter 12
Standardized Test Prep
Multiple Choice, continued
The image below is a
7. Which type of inheritance
pedigree showing the
pattern is associated with
inheritance of hemophilia in a
hemophilia?
family. Use the pedigree to
answer the question that
A. autosomal recessive
follows.
B. sex-linked dominant
C. sex-linked recessive
D. autosomal dominant
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Chapter 12
Standardized Test Prep
Short Response
Consider a couple about to get married. The woman
has cystic fibrosis, but the man does not.
What benefit would they gain by seeing a genetic
counselor?
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Chapter 12
Standardized Test Prep
Short Response, continued
Consider a couple about to get married. The woman
has cystic fibrosis, but the man does not.
What benefit would they gain by seeing a genetic
counselor?
Answer:
Genetic counseling will tell them the likelihood of
each of their children having cystic fibrosis or carrying
the cystic fibrosis gene.
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Chapter 12
Standardized Test Prep
Extended Response
Colorblindness is a recessive, sex-linked trait. A
woman and a man, both with normal vision, have
three daughters with normal vision. One of the
daughters marries a man with normal vision, and
they have a son who is colorblind.
Part A Which parent of the son is the carrier of the
trait? Explain your answer.
Part B What is the likelihood that the children of a
woman heterozygous for colorblindness and
colorblind man will express the trait? Explain
your answer.
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Chapter 12
Standardized Test Prep
Extended Response, continued
Answer:
Part A The son’s mother carries the trait. The gene for
colorblindness is carried on the X chromosome.
Part B Given: X-linked recessive: heterozygous female = XB
(normal)Xb (colorblind); colorblind male = Xb (colorblind)Y.
This Punnett square predicts that 50 percent of the
children will be male and 50 percent of the children will be
female. 50 percent will be colorblind and 50 percent will
have normal vision. 25 percent will be males with normal
vision and will not be carriers. 25 percent will be female
carriers with normal vision. 25 percent will be colorblind
females. 25 percent will be colorblind males.
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