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HUMAN BIOLOGY (BIOL 100A: Spring Semester) TEST 2 NOTES OUTLINE
Instructor: Mark Eberle (Albertson Hall 424, 628-5264, [email protected])
GENETICS
I) Genome → Chromosomes → Genes
II) Chromosomes
A) DNA
1) Double Helix
B) Homologous Chromosome Pairs
1) Diploid Cells
2) Haploid Cells
3) Sex Chromosomes
a) XX
● Barr body
b) XY
4) Autosomes
5) Karyotype
C) Genes
1) Alleles
III) Cellular Division
A) Mitosis
1) Interphase
a) Replication
● DNA Polymerase
● Chromatids
● Centromere
2) Prophase
a) Spindle Fibers
3) Metaphase
4) Anaphase
5) Telophase
6) Cytokinesis
B) Meiosis
1) Gametes
2) Meiosis I
a) Interphase I
b) Prophase I
c) Metaphase I
d) Anaphase I
e) Telophase I
3) Meiosis II
a) Interphase II
b) Prophase II
c) Metaphase II
d) Anaphase II
e) Telophase II
f) Cytokinesis
C) Meiosis and Genetic Diversity
1) Independent Assortment
2) Crossing Over
IV) Heredity
A) Gregor Mendel
B) Heredity
1) Genotype
a) Homozygous Alleles
b) Heterozygous Alleles
2) Phenotype
C) Principle of Dominance
1) Complete Dominance
a) Dominant
b) Recessive
2) Other Types of Dominance
a) Incomplete Dominance
b) Codominance
D) Principle of Segregation
E) Principle of Independent Assortment
1) Gene Linkage
F) Multiple Alleles
G) Polygenic Inheritance
V) Gene Expression
A) Anatomy of a Gene
1) Promoter Site  Gene
2) Deoxyribonucleic Acid (DNA): double-stranded helix
3) Ribonucleic Acid (RNA): single strand
a) Nucleotides
● Nitrogenous Bases
Adenine (DNA, RNA)
Cytosine (DNA, RNA)
Guanine (DNA, RNA)
Thymine (DNA only)
Uracil (RNA only)
● Base Pairs (connected by hydrogen bonds)
DNA: C ≡ G and A = T
RNA: C ≡ G and A = U
B) Transcription
1) RNA Polymerase
2) messenger RNA (mRNA)
a) Exons
b) Introns
3) Activator
4) Repressor
C) Translation
1) mRNA
a) Codon
2) transfer RNA (tRNA)
a) Anticodon
3) Ribosomes
a) ribosomal RNA (rRNA)
b) proteins
4) Polypeptide (sequence of amino acids)  Protein
VI) Genetic Disorders (know name, symptoms, and proper function of protein for 4 gene disorders)
A) Gene Disorders
1) Cystic Fibrosis
2) Sickle-cell Disease
3) Hemophilia
a) Sex-linked (X-linked) Condition
4) Duchenne’s Muscular Dystrophy
a) Sex-linked (X-linked) Condition
B) Chromosome Disorders
1) Down Syndrome
VII) Mutations
A) Point (Gene) Mutations
1) Spontaneous Mutations
2) Ionizing Radiation
a) Free Radical
b) Antioxidants
3) Ultraviolet (UV) Radiation
4) Chemical Mutagens
B) Chromosome Mutations
1) Deletions
2) Inversions
3) Duplications (e.g., Down Syndrome)
4) Translocations (e.g., some cancers)
VIII) Cancer
A) Stem Cells
1) Embryonic Stem Cells
2) Adult Stem Cells
3) Regenerative Medicine
B) Cancer
C) Regulation of Cell Division
1) Chemical Controls
a) Positive Growth Regulators
● Proto-oncogenes
● Oncogenes
b) Negative Growth Regulators
● Tumor Suppresser Genes
2) Physical Controls
a) Contact Inhibition
b) Anchorage Dependence
c) Telomere
● Telomerase
3) Natural defenses against cancer
a) Repair Proteins
b) Leukocytes (white blood cells)
D) Transformation
1) Attributes of Transformed Cells
a) Remain undifferentiated to some degree
b) Lose contact inhibition
● Benign Tumor
c) Lose anchorage dependence
● Metastasis (metastasizing cancer)
● Malignant Tumor
d) Have active telomerase
e) Rapidly transport materials through the plasma membrane
f) Exhibit angiogenesis
E) Cancer Risk Factors
1) Inherited alleles
2) Increasing age
3) Viruses
4) Physical and chemical carcinogens
5) Diet
6) Immune system health
F) Treatments for Cancer
1) Surgery
2) Radiation
3) Chemotherapeutic Drugs
a) Angiogenesis Inhibitors
4) Vaccines
5) Immunotherapy
a) Antibodies
b) Genetically engineered leukocytes
IX) Genetic Engineering
A) recombinant DNA (rDNA)
B) Vectors
1) Plasmid (bacterial DNA)
2) Virus
C) Restriction Enzymes
1) “Sticky Ends”
2) “Blunt Ends”
D) Applications for rDNA
1) Produce Proteins (e.g., human insulin)
2) Alter Organisms (GMOs = Genetically Modified Organisms)
3) Human Gene Therapy
X) Forensic Genetics
A) Polymerase Chain Reaction (PCR)
1) Amplification of DNA
2) Primers and individual nucleotides
3) DNA Polymerase
B) DNA “Fingerprinting”
1) Nucleotide Repeats
2) Restriction Enzymes
3) Gel Electrophoresis
XI) Evolution
A) Genetic Equilibrium
B) Natural Selection
1) Charles Darwin
2) Fitness
3) Drug-resistant Bacteria