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Chapter 2
Genetics: You and Your
Family Health History
(c) 2007 McGraw-Hill Higher Education. All rights reserved.
Genetic Pedigree
Also known as a genogram or family
health tree
A visual representation of your familys
genetic history
A diagram that illustrates the patterns of
health and illness within a family

(c) 2007 McGraw-Hill Higher Education. All rights reserved.
What can you learn from your
genetic pedigree?
An early onset of disease is more likely to
have a genetic component
The appearance of a disease in multiple
individuals on the same side of the family is
more likely to have a genetic relationship
(c) 2007 McGraw-Hill Higher Education. All rights reserved.
What else can you learn from
your genetic pedigree?
A family member with multiple cancers
represents a greater likelihood of a genetic
association
The presence of disease in family members
who have good health habits is more
suggestive of a genetic link than those
members who have disease due to poor
health habits
(c) 2007 McGraw-Hill Higher Education. All rights reserved.
The basics of heredity
The nucleus of every human cell contains 23 pairs
of chromosomes that make up the human genome
Chromosomes are made up of tightly coiled
molecules of DNA
Deoxyribonucleic Acid (DNA) is the genetic material
passed from one generation to the next
Genes, the units of heredity, are the segments of
DNA that encode a protein
(c) 2007 McGraw-Hill Higher Education. All rights reserved.
The Human Genome Project
Launched in 1990
An international collaboration of 20
groups in 6 countries
April 2003: announced that the
sequencing of the human genome was
complete
(c) 2007 McGraw-Hill Higher Education. All rights reserved.
The Human Genome Project
discoveries
Humans have only 20,000 to 25,000
genes (same as a mouse)
2% of human DNA occurs in genes
Confirmed that there are no separate
biological races in the human species
(c) 2007 McGraw-Hill Higher Education. All rights reserved.
How do genes affect your health?
Alternate forms of genes called alleles are
responsible for different traits such as eye
color
Alleles can be dominant or recessive
A person can inherit two dominant alleles,
one dominant and one recessive allele, or
two recessive alleles
(c) 2007 McGraw-Hill Higher Education. All rights reserved.
Genetic mutations
Many alleles arise because of mutations that
occur during meiosis
A mutation is an alteration in the DNA
sequence of a gene
Mutations can be neutral, beneficial, or
harmful to an organism and can cause a
disease or disorder
(c) 2007 McGraw-Hill Higher Education. All rights reserved.
Single-Gene Disorders
Single-gene disorders are diseases caused
by a mutation within one gene
Autosomal dominant disorder: mutated gene
is an autosome that is dominant
Autosomal recessive disorder: two copies of
a mutated gene on an autosome
Sex-linked disorder: mutated gene is on the
sex chromosome
(c) 2007 McGraw-Hill Higher Education. All rights reserved.
Polygenic and Multifactorial
Disorders
Polygenic disorders are caused by interactions
among mutations in multiple genes
Multifactorial disorders occur as a result of
Interactions of genes with environmental factors
such as tobacco smoke, pollution, and diet
Multifactorial disorders include heart disease,
cancer, diabetes, and schizophrenia
(c) 2007 McGraw-Hill Higher Education. All rights reserved.
Chromosomal Disorders
An inherited disorder caused by mutations involving
an entire chromosome
Many of these disorders lead to fetal death or death
within the first year of life
Individuals with chromosomal disorders exhibit a
broad range of symptoms, called a syndrome,
ranging from physical traits to developmental
delays
Down Syndrome and Turner Syndrome are
examples of such disorders
(c) 2007 McGraw-Hill Higher Education. All rights reserved.
Ethnicity and Genetic Disorders
Some genetic patterns occur more frequently in
particular groups than in others
Geneticists have confirmed that closely knit
populations, such as ethnic groups, share genes
The following are types of inherited disorders that
occur more frequently within certain ethnic groups
Sickle Cell Disease affecting people of African decent
Tay-Sachs Disease affecting people of Eastern European
Jewish ancestry
Cystic Fibrosis affecting white people of European decent
(c) 2007 McGraw-Hill Higher Education. All rights reserved.
Genetics and Mental Disorders
Scientific evidence has suggested that a
genetic contribution exists with the following
mental disorders:
Schizophrenia
Mood and Anxiety Disorders
Alzheimers Disease
(c) 2007 McGraw-Hill Higher Education. All rights reserved.
Genetics and Behavior
Researchers are studying the genetic
contribution to a variety of behaviors such as:
Personality
Sexual orientation
Addiction
(c) 2007 McGraw-Hill Higher Education. All rights reserved.
Genetic Counseling and Testing
The goal of genetic counseling is to help
families/individuals understand the role genetics
play in a particular disorder
The more popular types of tests are listed below:
Diagnostic Tests
Predictive Tests
Carrier Tests
Prenatal Screening
Newborn Screening
(c) 2007 McGraw-Hill Higher Education. All rights reserved.
Management and Treatment of
Genetic Conditions
Dietary Modifications
Medications
Environmental Adaptations
Gene Therapy
(c) 2007 McGraw-Hill Higher Education. All rights reserved.
Implications of Genetic Research
Medical advances and cures
Issues in genetic screening and testing
Issues of privacy and discrimination
Workplace discrimination
Health Insurance discrimination
Parental eugenics (selective breeding)
(c) 2007 McGraw-Hill Higher Education. All rights reserved.
Chapter 2
Genetics: You and Your
Family Health History