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Leslie Reyes
p.7
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
Syndrome.
• 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
21.
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
effects.
• 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.
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)
traits.
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.
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
accumulate.
• 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
starts.
• Sometimes, a mutation to one of more of these same genes does not
occur in a cell that gives rise to gametes (preventing inheritance).