Chapter 13 Genetic Engineering

13-1 Changing the Living World

Selective Breeding
- Selective breeding allows only those organisms with desired characteristics to produce
the next generation.
- Nearly all domestic animals and most crop plants have been produced by selective
breeding.
- Humans use selective breeding to pass desired traits on to the next generation of
organisms.
Hybridization
- Hybridization is the crossing of dissimilar individuals to bring together the best of both
organisms.
Inbreeding
- Inbreeding is the continued breeding of individuals with similar characteristics.
- Inbreeding helps to ensure that the characteristics that make each breed unique will be
preserved.
- Serious genetic problems can result from excessive inbreeding.
Increasing Variation
- Breeders increase the genetic variation in a population by inducing mutations.
- Breeders can often produce a few mutants with desirable characteristics that are not
found in the original population.
Producing New Kinds of Bacteria
- Introducing mutations has allowed scientists to develop hundreds of useful bacterial
strains, including bacteria that can clean up oil spills.
Producing New Kinds of Plants
- Mutations in some plant cells produce cells that have double or triple the normal
number of chromosomes.
- This condition, known as polyploidy, produces new species of plants that are often
larger and stronger than their diploid relatives.
- Polyploidy in animals is usually fatal.
13-2 Manipulating DNA
The Tools of Molecular Biology
- Scientists use their knowledge of the structure of DNA and its chemical properties to
study and change DNA molecules.
- In genetic engineering, biologists make changes in the DNA code of a living organism.
DNA Extraction
- DNA can be extracted from most cells by a simple chemical procedure.
- The cells are opened, and the DNA is separated from the other cell parts.
Cutting DNA
- Most DNA molecules are too large to be analyzed, so biologists cut them into smaller
fragments using restriction enzymes.
Separating DNA
- In gel electrophoresis, DNA fragments are placed at one end of a porous gel, and an
electric voltage is applied to the gel.
- When the power is turned on, the negatively charged DNA molecules move toward the
positive end of the gel.
- Gel electrophoresis can be used to compare the genomes of different organisms or
different individuals.
- It can also be used to locate and identify one gene in an individual's genome.
- The smaller the DNA fragment, the faster and farther it will move across the gel.
- Based on size, the DNA fragments make a pattern of bands on the gel.
- These bands can then be compared with other samples of DNA.
Using the DNA Sequence
- In DNA sequencing, a complementary DNA strand is made using a small proportion of
fluorescently labeled nucleotides.
Cutting and Pasting
- Short sequences of DNA can be assembled using DNA synthesizers.
- “Synthetic” sequences can be joined to “natural” sequences using enzymes that splice
DNA together.
- These enzymes also make it possible to take a gene from one organism and attach it to
the DNA of another organism.
- Such DNA molecules are sometimes called recombinant DNA.
Making Copies
- Polymerase chain reaction (PCR) is a technique that allows biologists to make copies of
genes.
13-3 Cell Transformation
Transforming Bacteria
- During transformation, a cell takes in DNA from outside the cell. The external DNA
becomes a component of the cell's DNA.
- Foreign DNA is first joined to a small, circular DNA molecule known as a plasmid.
Transforming Plant Cells
- If transformation is successful, the recombinant DNA is integrated into one of the
chromosomes of the cell.
Transforming Animal Cells
- Many egg cells are large enough that DNA can be directly injected into the nucleus.
- Enzymes may help to insert the foreign DNA into the chromosomes of the injected cell.
- DNA molecules used for transformation of animal and plant cells contain marker genes.
13–4 Applications of Genetic Engineering
Transgenic Organisms
- An organism described as transgenic, contains genes from other species.
Transgenic Microorganisms
- Transgenic bacteria produce important substances useful for health and industry.
Transgenic bacteria have been used to produce:
o Insulin
o growth hormone
o clotting factor

Transgenic Animals
- Transgenic animals have been used to study genes and to improve the food supply.
- Mice have been produced with human genes that make their immune systems act
similarly to those of humans. This allows scientists to study the effects of diseases on
the human immune system.
Transgenic Plants
- Transgenic plants are now an important part of our food supply.
- Many of these plants contain a gene that produces a natural insecticide, so plants do
not have to be sprayed with pesticides.
Cloning
- A clone is a member of a population of genetically identical cells produced from a single
cell.
- Researchers hope cloning will enable them to make copies of transgenic animals and
help save endangered species.
- Studies suggest that cloned animals may suffer from several genetic defects and health
problems.
Chapter 14 The Human Genome

14–1 Human Heredity

Human Chromosomes
- Cell biologists analyze chromosomes by looking at karyotypes.
- A picture of chromosomes arranged in this way is known as a karyotype.
- Two of the 46 human chromosomes are known as sex chromosomes, because they
determine an individual's sex.
o Females have two copies of an X chromosome.
o Males have one X chromosome and one Y chromosome.
- The remaining 44 chromosomes are known as autosomal chromosomes, or autosomes.
- All human egg cells carry a single X chromosome (23, X).
- Half of all sperm cells carry an X chromosome (23, X) and half carry a Y chromosome (23,
Y).
- About half of the zygotes will be 46, XX (female) and half will be 46, XY (male).
Human Traits
Pedigree Charts
- A pedigree chart shows the relationships within a family.
- Genetic counselors analyze pedigree charts to infer the genotypes of family members.
- Genes and the Environment
- Some obvious human traits are almost impossible to associate with single genes.
Human Genes
Blood Group Genes
- Human blood comes in a variety of genetically determined blood groups.
- The best known are the ABO blood groups and the Rh blood groups.
- The Rh blood group is determined by a single gene with two alleles—positive and
negative.
- -The positive (Rh+) allele is dominant, so individuals who are Rh+/Rh+ or Rh+/Rh are said
to be Rh-positive.
- Individuals with two Rh- alleles are said to be Rh-negative.
- ABO blood group
o There are three alleles for this gene, IA, IB, and i.
o Alleles IA and IB are codominant.
- Individuals with alleles IA and IB produce both A and B antigens, making them blood
type AB.
- The i allele is recessive.
- Individuals with alleles IAIA or IAi produce only the A antigen, making them blood type A.
- Individuals with IBIB or IBi alleles are type B.
- Individuals who are homozygous for the I allele (ii) produce no antigen and are said to
have blood type O.
Recessive Alleles
- The presence of a normal, functioning gene is revealed only when an abnormal or
nonfunctioning allele affects the phenotype.
- Many disorders are caused by autosomal recessive alleles.
Dominant Alleles
- The effects of a dominant allele are expressed even when the recessive allele is present.
- Two examples of genetic disorders caused by autosomal dominant alleles are
achondroplasia and Huntington disease.
Codominant Alleles
- Sickle cell disease is a serious disorder caused by a codominant allele.
From Gene to Molecule
- In both cystic fibrosis and sickle cell disease, a small change in the DNA of a single gene
affects the structure of a protein, causing a serious genetic disorder.
Cystic Fibrosis
- Cystic fibrosis is caused by a recessive allele.
- Sufferers of cystic fibrosis produce a thick, heavy mucus that clogs their lungs and
breathing passageways.
Sickle Cell Disease
- Sickle cell disease is a common genetic disorder found in African Americans.
- It is characterized by the bent and twisted shape of the red blood cells.
- Hemoglobin is the protein in red blood cells that carries oxygen.
- In the sickle cell allele, just one DNA base is changed.
- As a result, the abnormal hemoglobin is less soluble than normal hemoglobin.
- Low oxygen levels cause some red blood cells to become sickle shaped.
- People who are heterozygous for the sickle cell allele are generally healthy and they are
resistant to malaria.
14–2 Human Chromosomes
Sex-Linked Genes
- The X chromosome and the Y chromosomes determine sex.
- Genes located on these chromosomes are called sex-linked genes.
- More than 100 sex-linked genetic disorders have now been mapped to the X
chromosome.
- The Y chromosome is much smaller than the X chromosome and appears to contain only
a few genes.
- Males have just one X chromosome. Thus, all X-linked alleles are expressed in males,
even if they are recessive.
Colorblindness
- Three human genes associated with color vision are located on the X chromosome.
- In males, a defective version of any one of these genes produces colorblindness.
Hemophilia
- The X chromosome also carries genes that help control blood clotting. A recessive allele
in either of these two genes may produce hemophilia.
- In hemophilia, a protein necessary for normal blood clotting is missing.
- Hemophiliacs can bleed to death from cuts and may suffer internal bleeding if bruised.
Duchenne Muscular Dystrophy
- Duchenne muscular dystrophy is a sex-linked disorder that results in the weakening and
loss of skeletal muscle.
- It is caused by a defective version of the gene that codes for a muscle protein.
X-Chromosome Inactivation
- British geneticist Mary Lyon discovered that in female cells, one X chromosome is
randomly switched off.
- This chromosome forms a dense region in the nucleus known as a Barr body.
- Barr bodies are generally not found in males because their single X chromosome is still
active.
- The most common error in meiosis occurs when homologous chromosomes fail to
separate.
- This is known as nondisjunction, which means, “not coming apart.”
- If nondisjunction occurs, abnormal numbers of chromosomes may find their way into
gametes, and a disorder of chromosome numbers may result.
Down Syndrome
- If two copies of an autosomal chromosome fail to separate during meiosis, an individual
may be born with three copies of a chromosome.
- Down syndrome involves three copies of chromosome 21.
- Down syndrome produces mild to severe mental retardation.
- It is characterized by:
o increased susceptibility to many diseases
o higher frequency of some birth defects

Sex Chromosome Disorders

- In females, nondisjunction can lead to Turner’s syndrome.
- A female with Turner’s syndrome usually inherits only one X chromosome (karyotype
45, X).
- Women with Turner’s syndrome are sterile.
- In males, nondisjunction causes Klinefelter’s syndrome (karyotype 47, XXY).
- The extra X chromosome interferes with meiosis and usually prevents these individuals
from reproducing.
14–3 Human Molecular Genetics
Human DNA Analysis
- There are roughly 6 billion base pairs in your DNA.
- Genetic tests are available for hundreds of disorders.
- DNA testing can pinpoint the exact genetic basis of a disorder.
DNA Fingerprinting
- DNA fingerprinting analyzes sections of DNA that have little or no known function but
vary widely from one individual to another.
- Only identical twins are genetically identical.
- DNA samples can be obtained from blood, sperm, and hair strands with tissue at the
base.
- DNA fragments are separated using gel electrophoresis.
- Fragments containing repeats are labeled.
- This produces a series of bands—the DNA fingerprint.
The Human Genome Project
- The Human Genome Project is an ongoing effort to analyze the human DNA sequence.
- In June 2000, a working copy of the human genome was essentially complete.
Gene Therapy
- In gene therapy, an absent or faulty gene is replaced by a normal, working gene.
- The body can then make the correct protein or enzyme, eliminating the cause of the
disorder.
- Viruses are often used because of their ability to enter a cell’s DNA.
- A DNA fragment containing a replacement gene is spliced to viral DNA.
- The patient is then infected with the modified virus particles, which should carry the
gene into cells to correct genetic defects.