Compendium Review Major Topic Three: 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
► Mitosis ► Meiosis ► Mitosis

and Cell Cycle

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,

cell cycle. INTERPHASE: DNA synthesis and cell growth occur. This part of the cell cycle is the longest and is broken up into three stages. 1. G1 Stage: Organelles double, material collected for DNA replication and chromatin conversion. 2. S Stage: DNA replicates producing duplicated chromosomes. 3. G2 Stage: proteins are synthesized in preparation for cell division.

Chromosomes and Cell Cycle Continued CELL CYCLE: Interphase, mitosis, and cytokinesis are the three stages of a
CELL DIVISION: After the interphase stage is complete, the cell will enter the division stage which consists of M (mitotic) and cytokinesis. MITOSIS: A type of cell division where all new nucleus contain a duplicated copy as that of its parent cell. It will have the same number and kind of chromosomes. CYTOKINESIS: Cytoplasm division occurring after mitosis. Picture shows Cell Cycle Process

Picture from Human Biology by Sylvia S. Mader page

► Chromosomes

and Cell Cycle

► Meiosis ► Mitosis

and Meiosis Comparison ► Chromosome Inheritance

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 DIPLOID is the complete quantity of chromosomes (2n).

Parent Cell

Picture from Human Biology by Sylvia S. Mader page


Phases of Mitosis: There are four phases of mitosis
1. Prophase: Centrosomes duplicate outside nucleus and move to opposite ends. Spindle fibers appear in between the separated area, envelope starts to break and the nucleolus (responsible for ribosomal subunit production) disappears. Chromosomes are visible; positioned in nucleus. 2. Metaphase: Breakage of nuclear envelope. Spindle fibers migrate to area of where nucleus was and chromosomes center in the middle. 3. Anaphase: Centromeres divide, the chromatids split becoming daughter chromosomes and move away from each other. The chromosomes move towards each pole to ensure each daughter ----> Early cell will have the same Metaphase number and Nucleoli 4. Telophase: kind of chromosomes as the and nuclear envelopes parent daughter reappear as cell. cells are developing. While the chromosomes are at the poles they start to become indistinct Pictures from Human Biology by Sylvia S. Mader Pages 38283 chromatin.

Early Prophase to Prophase
Metaphas ----> Anaphase ----> e Telophase

Mitosis Continued
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 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

Pictures from Human Biology by Sylvia S. Mader Pages 383-84

Cleavage Furrow

► Chromosomes ► Mitosis

and Cell Cycle

► 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: Centromeres divide, sister chromatids separate. Result is daughter chromosomes. Once 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 INTERKINESI S is the time between the two periods.

Picture from Human Biology by Sylvia S. Mader page

Meiosis Continued

PROPHASE I: Synapsis takes place, spindle emerge, breakage of nuclear envelope, nucleolus disappears. A process known as CROSSING-OVER takes place where nonsister chromatids split apart and then fuse with the other chromatids to form chromosomes with mixed genes. Crossing-over of chromatids

Meiosis is broken down into two stages: Prophase I and Metaphase I.
METAPHASE I: Pairs align at equator and maternal or parental members can be ordered in a number of different combinations.

Pictures illustrates different pairings during Metaphase I

Picture from Human Biology by Sylvia S. Mader page 386

► Chromosomes ► Mitosis ► Meiosis

and Cell Cycle


and Meiosis Comparison

► Chromosome

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

Spermatogenesis & Oogenesis
SPERMATOGENESIS: Sperm production • 400 million sperm produced a day in the testes. • Primary Spermatocytes: Diploid (2n) • Secondary Spermatocytes: Haploid (n) Two chromatids • Spermatids: Two haploids split to four haploid (n) One chromatid each, eventually become sperm with 23 chromosomes each 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.

Spermatogene sis

Picture from Human Biology by Sylvia S. Mader Page 392

Oogenesi s

► Chromosomes ► Mitosis ► Meiosis ► Mitosis

and Cell Cycle

and Meiosis Comparison



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

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 Picture from Human Biology by Sylvia S. between segment switch occurs Mader Page 397

Changes in Chromosome Numbers Continued

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
► 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.




Picture from Human Biology by Sylvia S.

Types of 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 Oncology is the study of cancer and an oncologist is a 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.

Picture from http://en.wikipe ast_cancer

Carcinoma of breast: Pale area at center

Picture and verbiage from http://en.wikipe rian_cancer

“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 cutaneous structures (giving rise to the hair seen here), histologically there was abundant neuroglia and even one neuron. Central nervous

► Cancer


► Cancer

Causes and Prevention

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 protooncogene 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
► Cancer



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

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

► Cancer

Cells ► Cancer: Causes and Prevention ► Cancer Diagnosis ►Cancer


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 the body through bloodstream

Radiation therapy can help target localized sites

Pictures show A. bladder tumor B. Cutting tumor
Pictures from Human Biology by Sylvia Mader Page 415 and

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. <>. American Cancer Society. “Reducing The Risk of Skin Cancer.” Apr 2005. Accessed 3 Feb 2008. <>. "Breast cancer." Wikipedia, The Free Encyclopedia. 7 Feb 2008, 03:01 UTC. Wikimedia Foundation, Inc. 3 Feb 2008 <>. 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. <>. "Ovarian cancer." Wikipedia, The Free Encyclopedia. 2 Feb 2008, 00:21 UTC. Wikimedia Foundation, Inc. 2 Feb 2008 <>. Urology Channel. “Bladder Cancer.”, Inc. 27 Nov 2007. 2 Feb 2008. <>.

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