8/25/20151 Agenda for Tuesday (January 24, 2012) Journal Questions: a. What are genes? b. What are some causes of genetic mutations? c. What is RNA used

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Agenda for Tuesday (January 24, 2012)

Journal Questions: a. What are genes? b. What are some causes of genetic

mutations? c. What is RNA used for?

Agenda:*1. Lecture: Gene Mutations/DNA

Replication/Protein Synthesis. slide 492. DNA Lab (Handout): Color, Glue, Paste into

your composition book.3. Protein Synthesis Activity 3 in Packet3. Homework: Start studying for final: Chapters 1-12

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Lecture: Protein Synthesis

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What would happen if???

Created by:

Dr. Rick Woodward

Damn You Sharktopus!!!

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Gene Mutations A. A gene mutation is a

chemical change that occurs within the DNA of a cell.

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Mutagens A. A mutagen can change the

nucleotides within DNA molecules.

B. A nucleotide consists of three parts:

1. One nitrogen base (ATCG)

2. One sugar (deoxyribose)

3. One phosphate group

C. Hydrogen bonds join the two chains of nucleotides together.

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The Structure of DNAA. Double Helix (Watson & Crick)

B. Four Nitrogen Bases

1. Adenine (A)

2. Thymine (T)

3. Cytosine (C)

4. Guanine (G)

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The Structure of DNAC. Nitrogen Bases called Pyrimidines:

(Cytosine & Thymine)

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The Structure of DNAD. Nitrogen Bases called Purines:

(Adenine & Guanine)

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The Structure of DNAE. In what way do the nitrogen bases

bond? (Recall: The nitrogen base pairing rules)

1. A – T (Adenine bonds with Thymine)

2. C – G (Cytosine bonds with Guanine)

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The Structure of DNAF. What is a gene?

(1) A gene is one sequence of nucleotides along a DNA molecule.

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DNA ReplicationA. DNA replication results in

exact copies of genetic information that can be passed on to the offspring.

DNA Conservative Replication In conservative

replication, the two strands of DNA do not unwind as a brand new copy is produced and the old molecule remains intact.

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DNA Replication

B. Watson & Crick hypothesized that each original chain of nucleotides acts as a template, or mold, for making a new chain.

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Mutagens

A. Some examples of mutagens:

(1) X-rays

(2) Ultraviolet Rays (from the sun)

(3) Chemicals (alcohol, drugs, etc.)

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How X-Rays Damage DNA

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Chromosome MutationsA. Chromosome mutations are

changes occurring within the structure of the chromosome.

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Chromosome Mutations B. Some examples of

chromosome mutations:

(1) Deletion:

a. Involves the loss (deletion of a piece of chromosome.)

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Chromosome Mutations(2) A duplication occurs

when an extra, but identical piece of chromosome is added to the normal chromosome.

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Chromosome Mutations(3) Inversion occurs when

pieces of chromosome break apart and the pieces rejoin the same chromosome in a different order.

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Chromosome Inversion

Chromosome Translocation4. Translocation: An exchange of two

terminal segments from different chromosomes.

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Recall: KaryotypeA. A picture of an individual’s chromosomes

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Changes in the Number of Chromosomes: A. Monosomy is the loss of

a whole chromosome.

B. Trisomy is the addition of a chromosome.

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Reviewing Terminology

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Harmful Alleles A. Most of the harmful alleles in the

human population are recessive.

a. Why?

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Harmful Alleles B. Most human genetic disorders

are caused by a homozygous recessive genotype.

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Harmful Alleles

C. Examples:

(1) cc = homozygous recessive genotype for Cystic Fibrosis.

(2) ss = homozygous recessive genotype for Sickle Cell Anemia

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Multiple GenesA. Multiple genes are involved in many

genetic disorders, including:

(1) Diabetes mellitus

(2) Heart disease

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Diabetes Information:

Diabetes is a disease in which the body does not produce or properly use insulin. Insulin is a hormone that is needed to convert sugar, starches and other food into energy needed for daily life. The cause of diabetes continues to be a mystery, although both genetics and environmental factors such as obesity and lack of exercise appear to play roles.

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Diabetes Information:There are 20.8 million children and adults in the United States, or 7% of the population, who have diabetes. While an estimated 14.6 million have been diagnosed with diabetes, unfortunately, 6.2 million people (or nearly one-third) are unaware that they have the disease.

Recall From the Face Lab

A. Skin color is a polygenic trait because it occurs on the presence of more than one gene. -Recall you had to flip the coin several times.

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DNA versus RNADNA RNA

1. Location: Nucleus Ribosome

2. Function: Directs activities Protein of the cell

Synthesis

3. Nitrogen Bases: ATCG AUCG

4. Structure: Double Helix Single

Strand

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From Genes to ProteinsA. One chain of the DNA molecule acts

as a template for making RNA.

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From Genes to ProteinsB. Transcription is the

process of making RNA from DNA.

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From Genes to Proteins

C. RNA molecules are transcribed according to the information encoded in the base sequence of DNA. -C-G-A-G-C-G-A

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From Genes to Proteinsd. RNA polymerase (enzyme) binds

to a DNA molecule and causes it to separate.

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From Genes to Proteinse. Translation: The process of

converting the genetic code in RNA into the amino acid sequence that makes up a protein.

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From Genes to Proteinsf. Three types of RNA:

(1) Messenger RNA (mRNA):

-Is transcribed from DNA and codes for polypeptides.

-Transmits information from DNA for use during protein synthesis.

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From Genes to Proteinsf. Three types of RNA continued….

(2) Transfer RNA (tRNA): Allows complementary bases to pair.

-Exists in 20 or more varieties.

(Recall: 20 different amino acids)

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From Genes to Proteinsf. Three types of RNA continued:

(3) Ribosomal RNA (rRNA)

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From Genes to Proteinsg. Introns are intervening sets of

nucleotides that do not code for amino acids.

h. Exons are sets of nucleotides expressed by coding for amino acids.

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From Genes to Proteinsi. What is mRNA processing? The

removing of introns from mRNA.

j. The mRNA molecule moves through pores in the nuclear membrane and travels to ribosomes.

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From Genes to Proteins k. The assembly of amino acids into specific

proteins is called protein synthesis.

(The function of the ribosome)

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From Genes to Proteins

l. A specific group of three sequential bases of mRNA is called a codon.

(1) Each codon codes for a specific amino acid.

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Anticodonm. The anticodon is a region of tRNA

consisting of three bases complementary to the codon of mRNA.

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The Big PictureA. DNA Transcription mRNA Translation tRNA

Amino Acid Proteins (Polypeptide Chains)

Protein Synthesis

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Activity 3 in Your Packet: Protein Synthesis

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Activity 3 in Your Packet: Protein Synthesis

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Agenda: Wednesday (January 25, 2012)

Journal Questions:

a. What is the function of tRNA and mRNA?

b. What is an anticodon?

Woodwardsworld.org (to view ppts.)

*1. Lecture: Human Genetic Disorders -104

-Pedigrees

2. Human Genetics Reviews

3. Start DNA Ladder & Study Guide (Paper)

4. Protein Synthesis Activity 3

5. Work on Study Guide

HW: Complete Study Guide for Final Exam

-All work is due on the day of the final.

-Your final exam is …..

Human Genetics Reviews

Most are determined as

1. Autosomes Result in genetic Disorders

(1) PKU & Tay-Sachs

(2) HD (Huntington’s Disease)

(3) CF (Cystic Fibrosis)

(4) Sickle Cell Anemia

(5) Male Patterned Baldness

Chromosomes

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Human Genetics Review

Determines the sex of the organism

Result in Genetic Disorders (X-Linked) xx = female xy = male

Colorblindness

7. Hemophilia

8. Duchenne Muscular Dystrophy

(Table 12-3: Textbook)

Chromosomes

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2. If a mutated piece of DNA is carried on the X chromosome, the only way for this mutated allele to be expressed in a child born to two unaffected parents would be for the child to be a girl.

(b) False

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Human Genetic Review

3. An autosomal trait will occur equally in both males and females.

(a) True

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4. Since the ABO blood group alleles are co-dominant, an individual with the genotype IA IB will have the blood type:

(C) AB

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5. If a woman with type ii O blood type and a man with type AB (IA IB) blood have children, what are the children’s possible genotypes?

(b) Iai and IBi

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6. A trait whose expression is affected by the presences of sex hormones is said to be..

(a) Sex-Influenced

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7. A chromosomal mutation that creates an abnormal number of chromosomes (i.e. monosomy, trisomy) in the gametes during meiosis is called:

(d) Nondisjunction

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Human Genetics Review“Pedigrees”

8. Which of the above symbols represents a female?

“O”

9. Which of the above symbols represents an affected male?

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Human Genetics Review“Pedigrees”

10. Which of the above symbols represents a carrier female?

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Pedigree Profiles

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Hemophilia Pedigree

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Pedigree Profile

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Pedigree Profiles:Autosomal dominant:

Pedigree A (Yes, Every characteristic present in every generation. Equal in both male and female.)

Pedigree B (No)

Pedigree C (No)

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Pedigree Profiles

Autosomal Recessive

Pedigree A (No)

Pedigree B (Yes, not present in every generation and no carriers)

Pedigree C (No)

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Pedigree ProfilesSex linked = X-linked

Pedigree A (No)

Pedigree B (No)

Pedigree C (Yes, female = carrier, males affected)

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Today’s Lab Activity

1. Last two pages of your packet:Building a DNA Ladder1. Assign a color key for your

ladder.2. Color ladder according to your

color key.3. Cut out the pattern pieces.4. Construct your ladder.5. Glue your ladder into your

composition book

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Human Genetic DisordersA. Cystic Fibrosis

1. How common is it?

Cystic fibrosis is the most commonly inherited genetic disorder among Caucasian people.

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Cystic Fibrosis (CF)

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2. What happens? There is a malfunctioning in the mucous secreting glands of the body.

a. Thick mucous secretions build up in the air passages and lungs.

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b. Thick mucous secretions damage the pancreas and prevent or reduce the flow of digestive enzymes to the intestines.

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3. Symptoms: Wheezing, Coughing, Digestive Problems. (Max. Age = 27)

4. Etiology (the cause of the disease): Inheriting a recessive allele that codes for an abnormal protein.

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Human Genetic DisordersB. Huntington’s Disease

1. Huntington’s disease is caused by a dominant gene.

2. The offspring of a parent having a trait expressed by a dominant gene have a 50% chance of also having that trait.

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Risk of Huntington Disease (HD)

*Huntington’s Disease

Caused by a dominant allele. If a man who is heterozygous mate with a woman without the disease, what is the predicted ratio for the offspring having the disease.

Use a Punnett Square to figure out your response.

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2. Symptoms of the disease usually appear by the time a person is about 40 years old.a. Brain cells begin to deteriorate.b. Death usually occurs within 20 years after the onset of symptoms.

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c. Symptoms continued: Loss of muscle coordination, memory, and the ability to speak.

3. Location: Small segment on chromosome #4

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Human Genetic Disorders

C. Sickle Cell Anemia

1. How common is it?

About one out of 500 Americans of African descent have this disorder.

a. Caused by inheriting a recessive allele

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Recessive Allele: rr

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Human Genetic Disordersb. Inheriting a mutant hemoglobin allele.

c. Hemoglobin is a protein found in red blood cells

-Hemoglobin binds with oxygen in the lungs and transports oxygen to body cells.

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Human Genetic Disorders d. The slight difference in the

structure of the abnormal hemoglobin molecule makes them less soluble and causes them to form crystals with the red blood cells.

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Human Genetic Disorderse. Crystals distort the red blood

cell shape causing it to become sickle-shaped. (Sickle = Crescent Shaped)

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Human Genetic Disordersf. Sickle red blood cells are rigid

and cannot pass through capillaries as easily as normal (round) red blood cells.

(Capillaries become blocked causing symptoms….)

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Human Genetic Disorders2. Symptoms: Severe Pain, Fever,

Weakness, and sometimes Strokes.

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Human Genetic Disorders3. People who are homozygous for

sickle-cell hemoglobin resist malaria because the parasite that causes malaria does not thrive in cells with sickle hemoglobin.

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Malaria (Not a Genetic Disorder) 1. Malaria is caused by a

unicellular organism (parasite) that invades red blood cells.

2. Mosquito (Anopheles) spreads the disease.

3. Malaria is prevalent in certain parts of Africa

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Malaria Parasites among Normal Red Blood Cells

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Malaria Statistics:

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Film: The Coming Plaque Spotlight on

Malaria

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Recall: Sex Chromosomes

1 Pair of Sex Chromosomes:

XX = Female

XY = Male

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Sex-Linked Disorders1. Hemophilia (a protein

necessary for blood clotting is absent)

A. A small cut can cause significant loss of blood.

(life-threatening)

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Hemophilia Continued… a. Hemophilia means that the fibrin

net does not get made properly.

b. Without the fibrin net, the platelet plug falls out and bleeding continues.

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Sex-Linked Disorders

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Sex-Linked Disorders1. Hemophilia continued….

B. Caused by a recessive allele on the X chromosome.

C. Quality of life can be improved by giving the patient the clotting factor and blood transfusions.

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2. Color Blindness

A. Anything that is red or green appears brown to individuals with red-green color blindness.

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Testing for Red-Green Color Blindness Normal Positive

Test

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Sex-Linked Disorders2. Color Blindness

continued…

B. Caused by a recessive allele located on the X chromosome.

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What is a Karyotype?A. The appearance of

chromosomes in an organism regarding number, size, and shape.

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What is a Karyotype used for?

A. To detect certain chromosomal abnormalities.

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Karyotypes are made by…

1. Taking a sample of blood.

2. The white blood cells are separated out of the blood sample.

a. Why?

b. Answer: Recall red blood cells have no nucleus (no genetic information to analyze.)

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Karyotypes are made by….3. A chemical that stops the white

blood cells in metaphase of mitosis is added.

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Karyotypes are made by….4. Water is added to the white

blood cells, causing the cells to swell and burst.

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Karyotypes are made by ….

5. Chromosomes released by the white blood cells are stained and photographed.

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6. The photograph is enlarged and each individual chromosome is cut out and matched with its homologue.

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7. The chromosomes are arranged by size and then numbered.

-Visible chromosomal abnormalities can be easily identified by looking at the chromosomes.

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Translocation…A. Translocation occurs when a

deleted portion of a chromosome attaches to another chromosome.

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Down Syndrome A. Characteristics: Varying degrees of

mental retardation, from mild to severe:

(1) Short Stature: Shorter than normal.

(2) Many are born with heart, intestinal, or vision problems.

(3) Extremely susceptible to infection.

(4) May develop infections and/or blood cell cancer (leukemia).

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Down Syndrome B. Causes of Down Syndrome:

(1) Nondisjunction: The failure of paired chromosomes to separate during meiosis.

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Down SyndromeB. Causes continued…

(2) Translocation: The attaching of a deleted portion of one chromosome onto another chromosome.

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Down Syndrome B. Causes continued…

(3) Trisomy of Chromosome #21

A. Trisomy = The presence of 3

chromosomes.

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Down SyndromeB. Causes continued…

(4) Seen more often in children born to mothers over the age of 35.

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Down Syndrome

C. Average Life Span: With better health care, the average life span has increased to 30 years of age.

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Down Syndrome

D. Geneticists are currently studying the DNA of Chromosome #21:

(1) To learn which genes on chromosome 21 cause Down Syndrome.

(2) To discover which proteins are coded for by those genes.

(3) To discover why three chromosome cause this disorder.

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Genetic Disorders versus Congenital Disabilities

1. Genetic disorders are inherited.

2. Congenital disabilities are acquired during development.

a. They are not inherited.

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Genetic Disorders versus Congenital Disabilities

3. More than 200,000 babies are born in the United States each year with genetic disorders or congenital disabilities.

4. Some disorders may have little or no effect on people. Others cause severe health problems and may become fatal.

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Genetic Counseling

A. Who does genetic counseling?

A person trained in genetics can give parents information about the chances of their newborn child having a genetic disorder.

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Genetic CounselingB. Genetic counseling is

particularly valuable to parents with family histories of genetic disorders.

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Genetic Counseling

C. Genetic counseling cannot tell if a specific individual will be afflicted.

-It can only determine probability.

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Genetic Counseling

D. Genetic counselors:

1. Study family histories

2. Use diagnostic techniques

3. Utilize knowledge of basic patterns of heredity to determine the chances of a child having a genetic disorder.

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Genetics

Journal Questions:

a. What are the symptoms of sickle cell anemia?

b. What does translocation mean?

c. Lecture: Diagnostic Techniques

Treating Genetic Disorders

Gene Therapy

(Science (2002) 295:1443)

Carbon Copy: The First Cloned Cat (2002)

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Diagnosis in the UterusA. Amniocentesis

1. Used to examine the chromosomes in a developing fetus

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Diagnosis in the UterusA. Amniocentesis continued..

2. Commonly used to identify

Down Syndrome (Trisomy 21).

a. Fluid can also be used to identify defective alleles.

(i.e. Hemophilia, Sickle Cell Anemia)

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Diagnosis in the Uterus A. Amniocentesis continued…

3. Amniocentesis is not conducted until at least the 14th week of pregnancy because injury of the fetus could occur if this diagnostic technique were conducted earlier.

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Diagnosis in the Uterus A. Amniocentesis continued….

4. Steps involved in amniocentesis:

(1) A sample of the fluid surrounding the fetus is withdrawn through a

long,

thin needle.

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Diagnosis in the Uterus A. Amniocentesis continued…

4. Steps involved in amniocentesis:

(2) The fluid contains fetal cells that are then grown in lab.

a. Ten days are required to grow enough fetal cells for microscopic examination.

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Diagnosis in the UterusA. Amniocentesis continued…

(4) Steps involved in amniocentesis:

(3) A karyotype of the chromosomes is then made from the fetal cells.

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Diagnosis in the Uterus Amniocentesis &

Ultrasonography are often used together to diagnose genetic disorders.

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Diagnosis in the Uterus

B. Ultrasonography

1. Used to determine the position and anatomy of the fetus.

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Diagnosis in the Uterus 2. To perform an ultrasonography:

(1) An ultrasound probe is passed back and forth over the mother’s abdomen.

(2) Reflected sound waves are used to form an image of the fetus.

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Diagnosis in the Uterus C. Chorionic Villus Biopsy

1. Cells from a tissue called the chorion, which is part of the structure by which the fetus is linked to the mother in the uterus, can be removed.

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Diagnosis in the Uterus

C. Chorionic Villus Biopsy continued…

2. This procedure can be performed as early as the 9th week of pregnancy.

3. Cells can be karyotyped and analyzed as in an amniocentesis.

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Diagnosis in the Uterus D. Fetoscopy:

1. An endoscope is inserted through a small incision in the mother’s abdomen.

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Diagnosis in the Uterus D. Fetoscopy continued…

2. The fetus is viewed directly through the endoscope tube.

3. Samples of fetal skin or blood can be withdrawn and studied.

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Treating Genetic DisordersKey Term: Recombination

Recombination is the formation of a new gene combination due to the crossing over by the homologous chromosomes.

Recall: Crossing Over from book questions.

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Crossing OverThe exchange of genetic information:

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A. Recombinant DNA technology has led to the development of techniques that allow geneticists to:

1. Locate the positions of some genes that cause genetic disorders.

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2. Nucleotide sequences of normal alleles and harmful counterparts can be compared, as can the amino acid sequences of the proteins for which they code.

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3. Scientists have made practical use of their knowledge of genetic transformation by learning how to transfer a gene artificially from a donor organism to a bacterium.

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4. The DNA of the bacterium that has been altered by the insertion of a foreign gene is called recombinant DNA.

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5. Using recombinant DNA techniques, E. Coli bacteria can be engineered to produce a desired protein, such as human insulin.

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6. Plasmids in bacteria are the structures with which the foreign DNA is recombined.

a. Key Term: Plasmids

Plasmids = circular pieces

of DNA in bacteria.

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Gene Therapy

A. Is the treatment of genetic diseases by introducing normal genes into body cells.

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Gene Therapy

B. What is the number one cause of death in adults?

-Answer: Heart Disease

(Recall: Atherosclerosis)

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Gene Therapy

C. Hope for the Heart

(1) Doctors have two main treatment options when the coronary arteries that supply blood to the heart muscle are blocked or get clogged.

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Clogged Coronary Artery

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Gene Therapy


(2) Bypass Surgery: Re-routes blood through vessels taken from another part of the body

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Gene Therapy


(3) Angioplasty: Opens up obstructions in blood vessels with a tiny balloon or blasts through the cholesterol clogging obstructions with lasers and cutting tools.

-A third of these procedures do not work! (By-Pass & Angioplasty)

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Angioplasty

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Gene Therapy


(4) Researchers are trying out genetic therapy to grow new blood vessels, a process called angiogenesis.

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Gene Therapy

C. Hope for the Heart(5) Gene Therapy: A gene injected into the heart prompts the production of vascular endothelial growth factor, which tells the heart to make new blood vessels to re-vascularize the starved heart muscle.

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Types of Cloning1. Therapeutic Cloning

2. Organism Cloning

Biotechnology

Dolly and surrogate Mom

Genetically modified rice.

Embryonic stem cells and gene therapy

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Biotechnology

Biotechnology, defined broadly, is the engineering of organisms for useful purposes.

Often, biotechnology involves the creation of hybrid genes and their introduction into organisms in which some or all of the gene is not normally present.

Fourteen month-old genetically engineered (“biotech”) salmon (left) and standard salmon (right).

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Biotechnology

We’ll examine:

Animal cloning

Gene cloning for pharmaceutical production

The promise and perhaps perils of embryonic stem cells

DNA fingerprinting

Genetically modified foods and the American-European opinion divide.

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Animal Cloning

Dolly and her surrogate mother.

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The Biotechnology of Reproductive Cloning

Even under the best of circumstances, the current technology of cloning is very inefficient.

Cloning provides the most direct demonstration that all cells of an individual share a common genetic blueprint.

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Cloning

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Genetic Testing Kits

With something as simple as a cotton swab touching the inside of your cheek, you can now have an extensive genetic profile (your genome) report given back to you. This report will highlight your genetic predispositions to a number of diseases, which you can then use to take corrective action in lifestyle, diet, and exercise decisions

Documents

8/25/20151 Agenda for Tuesday (January 24, 2012) Journal Questions: a. What are genes? b. What are some causes of genetic mutations? c. What is RNA used