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Chapter 12 Notes – Human Genetics

Leslie Reyes

12.1 – The Nucleus Contains an information-rich genome.

1. Describe how DNA is packed within the nucleus.

2. Explain the significance of the Human Genome Project.

DNA Packing in a Single Cell

• Each chromosome consists of a single DNA molecule.
• The complete set of genetic material in an organism, as defined by the
order of bases in the DNA is called it’s genome.
• First, DNA wraps around small proteins called histones.
• Next, DNA the DNA is wrapped into a tight helical fiber, and then coils
further into a thick “supercoil”.
• Looping and folding further compacts the DNA in each chromosome.

12.2 – Accidents affecting chromosomes can cause disorders.

1. Relate down Syndrome and Nonseperation of chromosomes

2. Describe how Chromosomes can be damaged.
3. Explain how a “jumping gene” can effect other genes.

Down Syndrome
• Trisomy 21 results from an error during either stage of meiosis, but most
commonly during meiosis I.
• Many embryos with trisomy chromosome 21 do survive.
• People with trisomy 21 have a general set of symptoms called Down
• These symptoms include heart defects an impaired immune system, and
carrying degrees of mental disability.

Nonseperation of Chromosomes
• Trisomy 21 and other errors in chromosome number are usually caused
by homologous chromosomes or sister Chromatids failing to separate
during meiosis, and event called nondisjunction.
• It can occur in anaphase of meiosis I or II, resulting in gametes with
abnormal number of chromosomes.
• As a woman gets older, she is more likely to have offspring with trisomy
Damaged Chromosomes
• Even if all the chromosomes are present in normal numbers in a cell,
changes in a chromosome structure may also cause disorders.
• The first type of change, a duplication, occurs when part of a
chromosome is repeated.
• Duplications within certain chromosomes are not always fatal but often
result in developmental abnormalities.
• A second type of change, a Deletion, occurs when a fragment of a
chromosome is lost.
• Large deletions have a very serious effect on the body.
• Another type of change, an Inversion, involved reversing a fragment of
the original chromosome.
• Because most of the genes are still present in their normal number,
inversions are less likely than deletions or duplications to produce harmful
• A Translocation occurs when a fragment of one chromosome attaches to
a nonhomologous chromosome.
• Sometimes a translocation results in two different chromosomes
exchanging parts.

Jumping Genes
• Another type of change in chromosomes involves single genes that can
move around.
• Mcclintock discovered that these “jumping genes” could land in the middle
of other genes and disrupt them.
• McClintock’s jumping genes are now called transposons.

12.3 – Mendel’s principles apply to Humans.

1. Summarize the information provided in a pedigree.
2. Explain how recessive, dominant, and sex-linked disorders are inherited.
3. Describe how it is possible to predict certain genetic disorders.

Working with Human Pedigrees

• A Pedigree is a family tree that records and traces the occurrence of a
trait in a family.
• A typical pedigree uses squares to represent males and circles to
represent females.
• The colored shapes represent individuals that show the trait.
• Parents are connected buy horizontal lines, with their children beneath

Disorders Inherited as Recessive Traits

• Over a thousand human genetic disorders are known to have Mendelian
inheritance patterns.
• Most human genetic disorders are recessive.
• They also range in severity. Some such as albinism are not life-
• Others such as Tay-Sachs disease which leads to major nerve damages,
are fatal.
• The vast majority of people with recessive disorders are born to parents
who are heterozygous and do not have the recessive disorder.
• An individual who has one copy of the allele for a recessive disorder and
does not exhibit symptoms is a carrier or the disorder.
• The recessive allele for a very serious disorder, cystic fibrosis, is carried
by 1 in every 25 people of European ancestry.
• The gene involved codes for a protein that functions in the lungs and other
• A mutation in the gene makes the protein defective; this results in certain
organs secreting excessive amounts of very thick mucus.
• This mucus can interfere with breathing, digestion and liver function.

Disorders inherited as Dominant Traits.

• A smaller number of human disorders are inherited as dominant traits.
• One Ex.; being born with extra fingers and toes.
• A very serious from of dwarfism called achondroplasia causes the persons
torso to develop properly, but the arms and legs are short.
• All individuals with this disorder are heterozygous – They have a single
copy of the dominant allele.
• Inheriting two copies is fatal.
• Dominant alleles that are lethal are, in fact, much less common than lethal
• This is because for most dominant disorders, the affected person dies
before producing any offspring that could inherit the allele.
• In contrast, lethal recessive alleles usually do not have a large effect on
the heterozygous carriers.
• As a result, alleles for recessive disorders may pass undetected from
generation to generation, until two carriers happen to produce a
homozygous offspring with the disorder.
• Lethal dominant disorders that don’t cause death until adulthood can
affect multiple generations of a family.
• One example is Huntington’s disease; which causes a degeneration of the
nervous system that usually does not begin until middle age.
• As it progresses, it causes loss of mental ability and muscle control, and
eventually death.

Sex-Linked Disorders
• Red-Green colorblindness is a common sex-linked disorder that involves a
malfunction of light-sensitive cells in the eyes.
• It’s rare – but not impossible – for females to exhibit sex-linked (X-Linked)

Predicting and Treating Genetic Disorders

• A genetic counselor is trained to collect and analyze data about
inheritance patterns and to explain the results and their significance.

12.4 – Genetic changes contribute to Cancer.

1. explain how mutations to genes that play a role in regulating the cell cycle
can lead to cancer.
2. Describe how inheriting certain mutations can increase a person’s risk for

Cancer Genes
• One class of genes produces proteins called growth factors that initiate
cell division.
• The other class of genes, known as tumor-suppressor genes, produces
proteins that stop cell division in particular situations.
• A single mutation to a single gene involved in regulating the cell cycle
does not usually lead to cancer.
• Rather, cancer develops when several mutations to such genes
• For example, the path to cancer often starts with a mutation to a gene that
produces growth factors.
• If the mutation results in producing too much growth-factor activity, the
gene may have become an oncogene – a cancer causing gene.

“Inherited” Cancer
• Most mutations that lead to cancer occur in the organ where the cancer
• Sometimes, a mutation to one of more of these same genes does not
occur in a cell that gives rise to gametes (preventing inheritance).