Human Genetics

Concepts and Applications

Tenth Edition
RICKI LEWIS

Overview of
1 Genetics
PowerPoint® Lecture Outlines
Prepared by Johnny El-Rady, University of South Florida

Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display
 Genetics
Is the study of inherited
traits and their variation

Is a life science that

should not be confused
with genealogy
Figure 1.1

Is also an informational science that is

having a huge societal impact

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 Genes
Contain the instructions within the cells for
protein production

Genes are composed of deoxyribonucleic

acid (DNA)

Traits are produced by an interaction

between the genes and their environment
Figure 1.1
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 The Genome
Is the complete set of genetic information
for an organism
It includes all of the genes present in an
organism
- And also DNA sequences that do not
encode genes
Genomics is a field that analyzes and
compares genomes of different species

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 Levels of Genetics

Figure 1.2
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 Deoxyribonucleic Acid (DNA)
A double-stranded polymer consisting of a chain
of nucleotides
Deoxyribonucleotide components:
- Phosphate
- Sugar: Deoxyribose
- Base: Adenine A Guanine G
Thymine T Cytosine C

The sequence of the bases code for the amino

acid sequence in a protein
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 Box, Figure 1

Reading1.1, Figure 1

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 Ribonucleic Acid (RNA)
A single stranded polymer of ribonucleotides
Ribonucleotide components:
- Phosphate
- Sugar: Ribose
- Base: Adenine A Guanine G
Uracil U Cytosine C

Exists in several types

Uses information on DNA to construct proteins

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 Box, Figure 2

Reading 1.1, Figure 2

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 The Human Genome
Only 1.5% of our DNA encodes protein
- About 20,325 protein-encoding genes in all

Rest of the human genome includes highly

repeated sequences with unknown functions

Genes known to cause disorders or traits are

cataloged in a database
- Online Mendelian Inheritance in Man (OMIM)

Proteomics is a field that studies the proteins

made in a cell
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 Genes
Alleles are variants of genes

They form by mutation

Mutations in sperm or egg cells are passed

on to the next generation

Mutations may be positive, negative, or

neutral
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 Variations
Polymorphisms are variations in the DNA
sequence that occur in at least 1% of the
population

Single nucleotide polymorphisms (SNPs)

are single base sites that differ among
individuals
- Can cause disease or act as genomic
markers
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 Variations
Genome-wide association studies track
SNP patterns among individuals who
share a particular trait or disorder

Gene expression profiling measures

which genes are more or less active in
particular cell types

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 Chromosomes
Composed of DNA and protein

Found in the nucleus of the cell

Human somatic cells have 46 chromosomes

- 22 pairs of autosomes
- A pair of sex chromosomes
- Females have two X chromosomes
- Males have one X and a Y
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 Karyotype
A chart displaying the chromosome pairs from
largest to smallest

Figure 1.2
Figure 1.2 15
Table 1.1
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 Cells
A human body contains approximately 50-100
trillion cells
- All cells except RBCs contain the same genome

Differentiation causes cells to differ in appearance

and function
- Controlled by variation in gene expression

Stem cells are less specialized and can become

many different cell types

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Levels of Biological Organization

Figure 1.3

Figure 1.3 18
Table 1.2
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 Individual
The genotype of an individual refers to the
alleles they carry

The phenotype is the visible trait

A dominant allele is expressed if the

individual carries just one copy

A recessive allele is only expressed if the

individual carries two copies
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 The Family
Individuals are genetically connected into
families

A pedigree is a diagram used to study traits

in families
- Can be used to trace multiple genes or
genes with large environmental component
- Will be discussed in detail in Chapter 4

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 A Population
Is a group of interbreeding individuals

The gene pool is the sum of all alleles in a

population

Evolution is the changing allelic frequencies

in populations over time

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 Evolution
Genome comparisons among species reveals
evolutionary relationships
- The more similar the sequences are, the more
recent the divergence from a common ancestor

98% of human DNA sequences are shared

with chimpanzees
Humans share genes with mice, pufferfish,
fruit flies, yeast, and even bacteria
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Figure 1.4

Figure 1.4 24
Mendelian vs. Multifactorial Traits
Mendelian traits are determined by a single gene
- Their recurrence is predicted based on Mendel’s
laws

Multifactorial traits are determined by one or more

genes and the environment
- Predicting their recurrence is much more difficult

Most traits are multifactorial

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Mendelian vs. Multifactorial Traits

Figure 1.5

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 Genes and Disease Risk
Genetic determinism is the idea that the
expression of an inherited trait is inevitable

This may be harmful or helpful, depending on

its application
- As part of a social policy, it is disastrous
- Knowing genetic risks can help us make
good choices
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 Applications of Genetics
Genetics impacts many areas of our lives

DNA profiling (DNA fingerprinting) looks at

SNPs and short repeated DNA sequences
- It has applications in:
- Forensics
- History and ancestry

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 Forensics
Identification of victims of natural disasters or
terrorist attacks

Matching the DNA of suspects to samples left

at the crime scene

Helping adopted individuals locate blood

relatives
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 History and Ancestry
DNA analysis can flesh out historical details

- Revealing the offspring of Thomas

Jefferson and Sally Hemmings

- Revealing the origins of the Jewish Lemba

of South Africa

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 History and Ancestry

Figure 1.6 Figure 1.7

Figure 1.7 31
 Health Care
Pharmacogenomics is a field that identifies
individual drug reactions based on genetics

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 Health Care
Analysis of single-gene illnesses reveals
many differences from other diseases

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 Health Care
Diseases are increasingly being described in
terms of gene expression patterns

Tracking gene expression can reveal new

information about diseases and show how
diseases are related to each other
- This is not obvious via traditional medicine

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The Diseasome

Figure 1.7 35
 Genetic Testing and Treatment
Tests to identify about 1,200 single-gene
disorders have been available for years
- Direct-to-consumer (DTC) genetic testing

The Genetic Information Non-discrimination

(GINA) act was passed in the US in 2008

Genome information is useful for developing

treatment to genetic and infectious diseases
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 Agriculture
Traditional agriculture is the controlled
breeding of plants and animals

Biotechnology is the use of organisms or

their parts to produce goods and services

Genetically-modified (GM) organisms have

new genes or over- or under-express their
own genes
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Figure 1.9
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 Ecology
Metagenomics is a field that involves
sequencing all of the DNA in a habitat
- The Sargasso Sea
- The Human Microbiome Project

Metagenomic studies may be used to

reconstruct ecosystems

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 A Global Perspective
Genetics and genomics are spawning
technologies that may vastly improve the
quality of life

Human genome information has tremendous

potential for the entire globe
- Individual nations are using approaches
that exploit their particular strengths

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A Global Perspective

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