Compendium Review

Major Topic Two: Genetics

Table of Contents

Part 1
► Chromosomes and Cell Cycle
► Mitosis
► Meiosis
► Mitosis and Meiosis Comparison
► Chromosome Inheritance

► Part 2
► Cancer Cells
► Cancer: Causes and Prevention
► Cancer Diagnosis
► Cancer Treatment
Part 1
►Chromosomes and Cell Cycle
► Mitosis
► Meiosis
► Mitosis
and Meiosis Comparison
► Chromosome Inheritance
 Chromosomes and Cell Cycle
Pictures from
Human Biology
by Sylvia S.
Mader page
378

Humans have 46 chromosomes (23 pairs). Twenty-two pairs are identified as

autosomes, meaning they are all chromosomes except the sex
chromosomes. The sex chromosomes are known as XY (male) and XX
(female). These chromosomes account for the other pairs.
Any cell with a nucleus can be examined to see a persons chromosomes. A
computer aids in the arrangement of chromosomes; the display is known as
KARYOTYPE. Every body cell contains all 46 chromosomes. This is because of
a type of cell division known as MITOSIS.

Male sex
chromosomes XY

46 chromosomes of
male

Each pair of chromosomes appears to be pinched, or held together, by a

CENTROMERE. In dividing cells, a pair of chromosomes has SISTER CHROMATIDS,
 Chromosomes and Cell Cycle
Continued
CELL CYCLE: Interphase, mitosis, and cytokinesis are the three stages of a
cell cycle.
INTERPHASE: DNA synthesis CELL DIVISION: After the interphase
and cell growth occur. This stage is complete, the cell will enter
part of the cell cycle is the the division stage which consists of M
longest and is broken up (mitotic) and cytokinesis.
into three stages.
MITOSIS: A type of cell division where
1. G1 Stage: Organelles all new nucleus contain a duplicated
double, material collected copy as that of its parent cell. It will
for DNA replication and have the same number and kind of
chromatin conversion. chromosomes.
2. S Stage: DNA replicates CYTOKINESIS: Cytoplasm division
producing duplicated occurring after mitosis.
chromosomes.
Picture shows
3. G2 Stage: proteins are Cell Cycle
synthesized in preparation Process
for cell division.

Picture from Human Biology by Sylvia S. Mader page

► Chromosomes and Cell Cycle
►Mitosis
► Meiosis
► Mitosis
and Meiosis Comparison
► Chromosome Inheritance
 Mitosis
During the mitosis process, the sister chromatids break apart and become
chromosomes. They will become the chromosomes in two nuclei known as
daughter cells. Sister chromatids possess the same genes, as well as
identical genes of their parent cell.
Spindle Cycle: During mitosis, a separate
cycle pertaining to the manufacturing of
centrosomes is occurring. Centrosomes
duplicate, separate, and then form poles.
This is where the spindle fibers are made,
and eventually where the chromosomes
are attached to the fibers. Centrioles are
short microtubules in the centrosomes. A
Parent Cell
DIPLOID is the complete quantity of
chromosomes (2n).

Picture from
Human Biology
by Sylvia S.
Mader page Sister
 Phases of Mitosis: There are four phases of mitosis
1. Prophase: Centrosomes duplicate outside 2. Metaphase: Breakage of
nucleus and move to opposite ends. Spindle nuclear envelope. Spindle fibers
fibers appear in between the separated area, migrate to area of where nucleus
envelope starts to break and the nucleolus was and chromosomes center in
(responsible for ribosomal subunit production) the middle.
disappears. Chromosomes are visible; 3. Anaphase:
positioned in nucleus. Centromeres divide, the
chromatids split
becoming daughter
chromosomes and
move away from each
other. The
chromosomes move
towards each pole to
Early Prophase to ----> Early ensure each daughter
cell will have the same
Prophase Metaphase number and kind of
4. Telophase: Nucleoli
chromosomes
and nuclear envelopes as the
Metaphas ----> Anaphase ----> reappear parent as cell.
daughter
e Telophase cells are developing.
While the
chromosomes are at
the poles they start to
become indistinct
Pictures from Human Biology by Sylvia S. Mader Pages 382-
83
chromatin.
 Mitosis Continued Pictures from Human Biology
by Sylvia S. Mader Pages
383-84

CYTOKINESIS: Cytoplasm and

organelle division. CLEAVAGE
FURROW, indentation between cell
before it splits, occurs y pinching
the cell into two. Both cells have
their own plasma membrane.

The cell cycle will

produce cells to an Cleavage Furrow
extent; however, if the
cell cycle system does
not function correctly it
can create a benign or
cancerous tumor. The
cell cycle responds to
hormones, growth
factors, and repairs
wounds. The side picture
shows how the cell cycle
► Chromosomes and Cell Cycle
► Mitosis

►Meiosis
► Mitosis
and Meiosis Comparison
► Chromosome Inheritance
 Meiosis: Part of sexual reproduction
Chromosomes which look the same and carry the same genes are called
HOMOLOGOUS CHROMOSOMES. During the meiosis process, there are two division
phases: meiosis I and meiosis II/fertilization. Meiosis is an important function in sexual
reproduction because it ensures diversity in changing environments.

MEIOSIS I: The homologous pairs

arrange together, known as
SYNAPSIS. After synapsis occurs
they separate into sister
chromatids.
MEIOSIS II/FERTILIZAYION: INTERKINESI
Centromeres divide, sister S is the time
chromatids separate. Result is between the
daughter chromosomes. Once two periods.
the daughter cells mature they
become GAMETES, or sex cells.
They then combine during a
process known as
FERTILIZATION. The ZYGOTE is
the first cell in a new being and
has all of the number of
Picture from Human Biology by Sylvia S. Mader page
 Meiosis Continued
► Meiosis is broken down into two stages: Prophase I and Metaphase
I.
PROPHASE I: Synapsis takes place, METAPHASE I: Pairs align at
spindle emerge, breakage of nuclear equator and maternal or parental
envelope, nucleolus disappears. A members can be ordered in a
process known as CROSSING-OVER number of different combinations.
takes place where nonsister
chromatids split apart and then fuse
with the other chromatids to form
chromosomes with mixed genes.
Crossing-over of
chromatids

Pictures illustrates different

pairings during Metaphase I

Picture from Human Biology

by Sylvia S. Mader page 386
► Chromosomes and Cell Cycle
► Mitosis
► Meiosis

►Mitosis
and Meiosis
Comparison
► Chromosome Inheritance
 Mitosis and Meiosis Comparison
MITOSIS MEIOSIS
• One nuclear division • Two nuclear division
• Two daughter cells after • Four daughter cells after cytokinesis
cytokinesis
• Cells are haploid; half the
• Cells are diploid; same chromosome number of parent cell
chromosome number as parent
• Not genetically identical daughter
cell
cells (of each other or parent cell)
• Genetically identical daughter
• Takes place in reproductive organs
cells (of each other and parent
during reproducing time periods
cell)
• Like kind chromosomes pair
• Takes place during growth/repair
together and undergo crossing-over
of all tissues constantly
• During metaphase I homologous
• During metaphase the individual
chromosomes arrange in a line at
chromosomes arrange in a line at
equator (contain 4 chromatids)
equator (contain 2 chromatids)
• Homologous chromosomes split and
• Sister chromatids become
migrate away to opposite poles
chromosomes after breaking
away from centromeres; migrate
 Spermatogene
Spermatogenesis & Oogenesis sis

SPERMATOGENESIS: Sperm production

• 400 million sperm produced a day in the
testes.
• Primary Spermatocytes: Diploid (2n)
• Secondary Spermatocytes: Haploid (n) Two
chromatids Picture from
Human
• Spermatids: Two haploids split to four haploid Biology by
Sylvia S.
(n) One chromatid each, eventually become Mader Page
392
sperm with 23 chromosomes each Oogenesi
s
OOGENESIS: Egg production
• Ovaries possess immature follicles; each follicle
possess primary oocyte
• Primary Oocyte: Diploid (2n) splits during meiosis I to
haploid
• Secondary Oocyte: Duplicated chromosomes, one
receives majority of cytoplasm while the other becomes
the first polar body containing copied chromosomes.
Begins meiosis II. Leaves ovary, enters oviduct, fertilized
and completes Meiosis II. Egg has 23 chromosomes.
► Chromosomes and Cell Cycle
► Mitosis
► Meiosis
► Mitosis and Meiosis Comparison
►Chromosome Inheritance
 Chromosome Inheritance
Changes in Chromosome Numbers
If both homologous chromosome pair enter
the same daughter cell during meiosis I, or if
sister chromatids don’t separate during
meiosis II, this is known as NONDISJUNCTION
which results in too many or too few
chromosomes.
TRISOMY: 24 chromosome fertilized egg
MONOSOMY: 22 chromosome fertilized egg
BARR BODY: One X chromosome in female
becomes darkly stained and inactive (Turner
Syndrome XO; do not undergo puberty,
menstruation, or breast development)
During meiosis II, Jacobs syndrome occurs due to
nondisjunction of spermatogenesis
Trisomy 21, known as down syndrome, is caused by
an egg having two copies of chromosome 21,
leading to a total of three copies
Klinefelter Syndrome (XXY) occurs in males and can
produce speech/language problems. May require
Picture from Human Biology by Sylvia S. Mader Page
 Changes in Chromosome Numbers
Continued
PLOY-X FEMALES: Three/four X chromosomes, extra Barr bodies. May produce
motor/language problems. Usually have normal menstruation and fertility.

Chromosome mutations can be attributed

to many environmental causes (radiation,
viruses, some chemicals).
Chromosome structure changes can
include: deletion, duplication, inversion,
and translation.
A. DELETION: Chromosome ends severs or
when two severed parts result in segment
loss.
B. DUPLICATION: duplicated segment in one
chromosome.
C. INVERSION: chromosome segment
turned 180 degrees.
D. TRANSLOCATION: A chromosome
segment
Picture from switch occurs
Human Biology between
by Sylvia S. Mader Page
397
Chromosome Changes Continued
DELETION SYNDROMES: Williams Syndrome occurs
when chromosome 7’s end piece breaks off. Protein
elastin is not produced to missing gene, affecting skin
and cardiovascular system. Cri du chat Syndrome occurs
when chromosome 5’s end piece breaks off. Produces
facial and head size abnormalities as well as mental
retardation.

TRANSLOCATION SYNDROMES: Allele breakage in two

places. Translocation between chromosomes can be
responsible for physical abnormalities as well as
cancers.
Part 2

►Cancer Cells
► Cancer: Causes and Prevention
► Cancer Diagnosis
► Cancer Treatment
 Cancer Cells: Characteristics
Lack Differentiation: Cancer cells do not look like tissue cells nor do they have a
specific duty in body functions.
Abnormal Nuclei: Enlarged nuclei which may possess irregular chromosome numbers
and abnormal chromosomes.
Replicative Potential: Cancer cells are unlimited in replication and have the ability to
rebuild telomerase.
Form Tumors: Tumors are formed because the cancer cells layer themselves while
continuing to grow.
Growth Factors: Cancer cells do not respond to growth factors, therefore they do not
stop duplicating.
Cells Become Abnormal: Cancer development has three stages, initiation, promotion,
and progression; the development is known as CARCINOGENESIS.
Angiogenesis: Formation of new blood vessels to aid in distribution of oxygen and
nutrients to cancer cells.
Metastasis: Cancer cells have the ability to invade and spread to other portions of the
body away from its initial place of development. Tissue becomes invaded after cancer
cells produce proteinase enzymes which cause membrane degradation.
Cancer cells do not undergo APOPTOSIS, or cell death. TELOMERES is a repetitive DNA
sequence at the ends of chromosomes which aids in helping cells reproduce by
protecting chromosomes. Eventually telomeres get shortened, leading to apoptosis.
BENIGN TUMORS are usually encircled by a capsule, but CANCER IN SITU is not always
 Cancer Cells: Caused by Genetic Disease
Gene Mutations
PROTO-ONCO GENES: Promote cell reproduction, stops apoptosis, produce
acceleration of cell division. When these genes mutate they become
ONCOGENES, or cancer initiating. When a signal activates a cell to divide, it
is known as a GROWTH FACTOR. Proto-oncogenes have the ability to code for
growth factors. They can also turn on CYCLIN, a cell cycle protein, which
encourages mitosis. A proto-oncogene also has the ability to code for a
protein which makes P53, a protein which encourages apoptosis, unavailable.
TUMOR-SUPPRESSOR GENES: Slows cell reproduction and encourages
apoptosis. The mutated gene generations lack certain proteins that have
functions related to apoptosis and cell cycle.

Normal Precancerou Cancerous Picture from

Human Biology
by Sylvia S.
 Types of Cancer Picture from
http://en.wikipe
dia.org/wiki/Bre
ast_cancer
CARCINOMAS: Epithelial tissue cancer (Examples:
Breast, intestines, liver, lungs, prostate, skin, and
thyroid)
ANDOCARCINOMAS: Glandular epithelial cell cancer
SARCOMAS: Muscle and connective tissue cancer
(Examples: Bone and fibrous tissues)
LEUKEMIAS: Blood cancer
LYMPHOMAS: Lymphatic tissue cancer Carcinoma of breast:
Oncology is the study of cancer and an oncologist is a Pale area at center
doctor who specialize in the field of cancer. Breast and
prostate cancer seem to be the more popular cancers in
humans; however, lung and bronchus cancer caused
more deaths than the latter cancers.

“This 4-cm mature cystic teratoma of the ovary

was found incidentally at the time of Caesarean
section and removed. Like most ovarian
teratomas (and unlike those of the testis) this
one was benign, showing only mature tissues
microscopically. In addition to the obvious
Picture and cutaneous structures (giving rise to the hair
verbiage from
http://en.wikipe seen here), histologically there was abundant
dia.org/wiki/Ova
rian_cancer
neuroglia and even one neuron. Central nervous
► Cancer Cells
►Cancer: Causes and Prevention
► Cancer Diagnosis
► Cancer Treatment
 Cancer: Causes and Prevention
HEREDITY: Children inherit two copies of every gene, one copy being from
each of their parents. The chance of getting cancer is increased if both copies
are mutated. If only one copy is mutated, cancer will only develop where and
when the second copy mutates (tumor-suppressing genes). Some proto-
oncogene mutations can cause cancer with only one mutated gene, such as a
RET gene.
ENVIRONMENTAL CARCINOGENS: Mutations can be caused by substances
known as MUTAGEN. A carcinogen is a mutagen because it is known to cause
mutations. Different types of radiation, from UV light to radon gas can disturb
DNA and lead to mutations. The radiation from the atomic bomb left to
generation after generation of mutations for the people who were in the
vicinity of the radiation. Organic chemicals found in tobacco are responsible
for mutations and protein suppressing (p53). Also, pollutants found in the
environment such as pesticides and asbestos have been linked to mutation of
genes and cancers. Lastly, the following viruses have been linked as possibly
cancer causing: hepatitis B and C, Epstein-Barr, and HPV.
DIETARY CHOICES: Evidence has shown that high-fat diets, especially ones
with a plethora of refined foods, lead to obesity and may contribute to
negative effects on human systems. Proper nutrition and exercise may help
to decrease ones chance of developing certain cancers; consuming high-fiber
foods, taking vitamins, avoiding tobacco, alcohol, unprotected sun exposure,
► Cancer Cells
► Cancer: Causes and Prevention

►Cancer Diagnosis
► Cancer Treatment
 Cancer Diagnosis
There are 7 warning signs publicized by the American Cancer Society:
CAUTION
C: Change in bowel or bladder movements
A: A sore that does not heal
U: Unusual bleeding or discharge
T: Thickening or lump in breast or elsewhere
I: Indigestion or difficulty in swallowing
O: Obvious change in wart or mole
N: Nagging cough or hoarseness

Regular Screening/Tests: Regularly performing self-examinations for

breast or testicular cancer will aid in cancer detection. Also, routine pap
smear examinations help woman by checking for abnormalities in cervix
cells and advanced technologies has helped early detection of colon
cancer through colonoscopy examinations. Other advanced technologies
which aid in early cancer detection are CAT and MRI scans,
mammography, ultrasounds, and x-rays.
 Cancer Diagnosis Continued
The American Cancer Society has
also come out with the ABCD Rule
regarding Melanoma (skin tumors).

Picture from http://www.cancer.org/downloads/COM/05AprilPresentation.pdf

 Cancer Diagnosis Continued
Blood, urine, and tissue tests known as TUMOR MARKER TESTS can be run to
determine if cancer exists. The body produces substances (tumor markers) in
response to cancer growth. Tumor markers can be used to diagnose cancer
and determine if cancer has returned in a patient.
When researching The National Cancer Institute’s website for information on
the future of tumor marker tests, I found the following:
“Cancer researchers are turning to proteomics (the study of protein shape,
function, and patterns of expression) in hopes of developing better cancer
screening and treatment options. Proteomics technology is being used to
search for proteins that may serve as markers of disease in its early stages,
or predict the effectiveness of treatment or the chance of the disease
returning after treatment has ended.”

Genetic testing for mutations, proto-oncogenes and tumor-suppressor genes

are also helping with early detection of cancers.

Early detection, prevention, and ability to cure cancers is becoming

possible through our advancements in science and technologies.
Quote from http://www.cancer.gov/cancertopics/factsheet/Detection/tumor-
► Cancer Cells
► Cancer: Causes and Prevention
► Cancer Diagnosis

►Cancer Treatment
 Cancer Treatment
Surgery, radiation, and chemotherapy have all proven to
be helpful in the fight against cancer.
Surgery can remove cancer in situ and is usually followed up by alternative
methods to ensure the extinction of the cancer incase any cells were left
behind.
Radiation therapy is effective on cancer cells by disrupting their cell cycle
and chromosomal breakage. Radiation targets specific areas where the
cancer is known to be growing.
Chemotherapy kills cancer cells by injuring their DNA or obstructing DNA
synthesis. Chemotherapy is effective in that it travels throughout the whole
body versus treating localized areas.
Chemotherapy can
spread to all parts of Radiation therapy
the body through can help target
bloodstream
localized sites

Pictures show A. bladder tumor B. Cutting

tumor
Pictures from Human Biology by Sylvia Mader Page 415 and
http://www.urologychannel.com/bladdercancer/surgery.shtml
 Cancer Treatments Continued
IMMUNOTHERAPY: Different treatment tactics aiming to adjust one’s immune
system to aid in preventing healing cancer. In cancer, immunotherapy tries
to strengthen ones own immune system in hopes it will strengthen to fight
against cancer. This is known as ACTIVE IMMUNOTHERAPIES. Another
strategy is called PASSIVE IMMUNOTHERAPIES which manufactures certain
antibodies of the immune system outside the body and then injects them into
the body to help fight cancer. Some of the antibodies have radioactive
material attached to them or are attached with chemotherapy drugs to help
fight and poison cancer cells. Other antibodies are considered NAKED, not
possessing any attached drugs of radioactive materials, and are used by
attaching to cancer cells and signaling for their destruction.

P53 Gene Therapy: The p53 protein, which acts as a tumor suppressor by
initiating apoptosis, changes in the presents of cancer; allowing cancer to run
ramped. Scientists are working on a way to repair the damaged protein so
that it can function correctly in the presence of cancer.
 Works Cited

American Cancer Society. “Immunotherapy.” 14 Dec 2006. Accessed 3 Feb 2008.

<http://www.cancer.org/docroot/ETO/eto_1_3_Immunotherapy.asp>.
American Cancer Society. “Reducing The Risk of Skin Cancer.” Apr 2005. Accessed 3 Feb 2008.
<http://www.cancer.org/downloads/COM/05AprilPresentation.pdf>.
"Breast cancer." Wikipedia, The Free Encyclopedia. 7 Feb 2008, 03:01 UTC. Wikimedia Foundation,
Inc. 3 Feb 2008
<http://en.wikipedia.org/w/index.php?title=Breast_cancer&oldid=189654770>.
Mader, Sylvia S. Human Biology. New York: The McGraw-Hill Companies, Inc, 2008. Pages 378-418.
National Cancer Institute. Tumor Markers: Questions and Answers. Accessed 2 Feb 2008.
<http://www.cancer.gov/cancertopics/factsheet/Detection/tumor-markers>.
"Ovarian cancer." Wikipedia, The Free Encyclopedia. 2 Feb 2008, 00:21 UTC. Wikimedia
Foundation, Inc. 2 Feb 2008
<http://en.wikipedia.org/w/index.php?title=Ovarian_cancer&oldid=188496524>.
Urology Channel. “Bladder Cancer.” Healthcommunities.com, Inc. 27 Nov 2007. 2 Feb 2008.
<http://www.urologychannel.com/bladdercancer/surgery.shtml>.