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206 Cards in this Set

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Gregor Mendel is known as the
Father of Genetics.
Gregor Mendel is credited with stating the principle that traits among offspring result from
combinations of dominant and recessive genes.
Mendel did research with the garden pea
Pisum sativum.
Garden peas were easy to
cultivate, had a short generation time, and could be cross-pollinated without difficulty.
Gregor Mendel studied simple traits such as
plant size, pod shape, seed shape, seed color, flower position, flower color, and pod color and very carefully recorded statistical data about his experiments.
Mendel’s 1st experiments are called
monohybrid crosses
two parents different by a single trait is called
monohybrid crosses —height Ex: crossing a tall pea plant with a short pea plant.
Mendel carried out his experiments in
three steps:
STEP 1 of Mendel experiments
Mendel allowed each variety of garden pea to self pollinate for several generations.
Why was the garden pea allowed to self pollinate
This ensured that each variety was purebred for a particular trait—the offspring would show only one form of a particular trait.
These true-breeding plants served as
the parental generation in Mendel’s experiments.
Parental generation=
P1 generation or P generation.
P1 generation =
Tall x Short *Mendel crossed purebred tall with purebred short.
Mendel then crossbred two P1 generation plants that had
contrasting forms of a trait such as a tall and a short pea plant.
Mendel called the offspring of the P1 generation the
1st filial generation or F1 generation.
F1 generation is all
Tall Tall Tall Tall *All of the F1 generation is tall. It’s as if the shorter parent never existed.
Mendel allowed the F1 generation to
self pollinate .
He called the offspring of the F1 generation
the 2nd filial generation or F2 generation.
F2 generation code is
Tall Tall Tall Short. 75% (3/4) of F2 generation is tall and 25% (1/4) is short.
It was as if the short (recessive) trait had
reappeared out of nowhere. A dominant trait appears in every generation of the offspring; a recessive trait does not.
Mendel’s Laws - Law of Segregation
diploid cells have pairs of genes, or pairs of homologous chromosomes. The two genes of each pair are separated from each other during meiosis so they end up in different gametes.
Mendel’s Laws - Law of Independent Assortment
Genes on pairs of homologous chromosomes have been sorted out for distribution into one gamete or another, independently of gene pairs on other chromosomes. Exception: Genes that have loci very close to one another on a chromosome tend to stay together during meiosis.
Genetic Terms – Genetics
the science of heredity that involves the study of the structure and function of genes and the methods by which genetic information contained in genes is passed from one generation to the next.
Genetic Terms – Genes
units of information about specific traits on DNA that is passed from parents to offspring. Each has a specific location (locus) on a chromosome.
Genetic Terms – Alleles
different molecular forms of a gene.
Genetic Terms - Dominant Allele
masks a recessive allele and written as a capital letter.
Genetic Terms - Recessive Allele
the allele being masked by the dominant allele and is written with a lowercase letter.
A recessive trait will only appear if
both alleles are recessive.
Genetic Terms – Homozygous
having two identical alleles at a locus.
Genetic Terms - Homozygous dominant
two dominant alleles (AA)
Genetic Terms - Homozygous recessive
two recessive alleles (aa)
Genetic Terms – Heterozygous
having two different alleles at a locus.
The dominant allele is always written
first (Aa).
Genetic Terms – Genotype
the genes an individual carries.
T or F Genotypes can be determined by looking at appearance
Genotypes cannot be determined by looking at someone’s appearance alone. Ex: A tall plant can be either Tt or TT.
Genetic Terms – Phenotype
an individual’s physical traits.
Punnett Squares -
Experimental cross used to predict the probability of certain traits being inherited by offspring.
Punnett Squares - The alleles from one parent (usually the female) are written
across the top.
Punnett Squares - The alleles from the other parent (usually the male) are written
on the left vertical side.
Punnett Squares - A cross involving one pair of contrasting traits is a
monohybrid cross.
Punnett Squares - Step One:
Define the alleles—choose a letter to represent the trait. Write a capital for the dominant alleles and a lowercase for the recessive alleles.
Punnett Squares - Step Two:
Determine the genotype of the parents (homozygous dominant, homozygous recessive, heterozygous)
Punnett Squares - Step Three:
Draw a punnett square, place one set of letters across the top and one set along the side.
Punnett Squares - Step Four:
Fill in the blanks.
Punnett Squares – Exercise 1: Cross a heterozygous tall plant with a homozygous short plant. T=dominant for tall and t=recessive for short.
_______ x _______ Possible offspring: Genotype: ___________ Phenotype: ___________ Genotype ratio: ___________ Phenotype ratio: __________ _____ % tall _____ % short
Punnett Squares - Exercise#2: Cross a heterozygous tall plant with a heterozygous tall plant.
_______ x _______ Possible offspring: Genotype: ___________ Phenotype: ___________ Genotype ratio: ___________ Phenotype ratio: __________ _____ % tall _____ % short draw punnett square to support
Punnett Squares - Example #3: A homozygous tall plant is crossed with a homozygous short plant.
_______ x _______ Possible offspring: Genotype: ___________ Phenotype: ___________ Genotype ratio: ___________ Phenotype ratio: __________ _____ % tall _____ % short
Punnet Squares - Example #4: A homozygous tall plant bred to a heterozygous tall plant.
_______ x _______ Possible offspring: Genotype: ___________ Phenotype: ___________ Genotype ratio: ___________ Phenotype ratio: __________ _____ % tall _____ % short
Punnet Squares - A monohybrid test cross is used to
determine whether an individual possessing a dominant trait is homozygous or heterozygous for that trait.
Punnet Squares - The individual possessing the dominant trait is crossed with
an individual homozygous recessive for the trait.
Punnet Squares - If all the offspring are the same as the dominant parent, then the parent in question is
homozygous dominant.
Punnet Squares - If any of the offspring show the recessive trait, then the parent in question is
heterozygous.
Punnet Squares - Example: In guinea pigs, both BB and Bb result in a black coat. How could you determine whether a black guinea pig is homozygous (BB) or heterozygous (Bb)?
_______ x _______ Possible offspring: Genotype: ___________ Phenotype: ___________ Genotype ratio: ___________ Phenotype ratio: __________ _____ % tall _____ % short
A dihybrid cross
Involves alleles representing two or more traits.
Dihybrid cross Example: Alleles for height and allele for seed texture: -Dominant = tall (T) and Smooth (S) -Recessive = short (t) and wrinkled (s) -Male = wrinkled and heterozygous for height -Female = wrinkled and short
_______ x _______ 16 box punnet square - Possible offspring: Genotype: ___________ Phenotype: ___________ Genotype ratio: ___________ Phenotype ratio: __________ _____ % tall _____ % short
Probability is
A measure of the chance that a particular outcome will occur.
Probability =
number of possible outcomes/Total number of possible outcomes
Consider the possibility that a coin tossed in the air will land on heads. The total number of all possible outcomes is
two—heads or tails.
Consider the possibility that a coin tossed in the air will land on heads. The probability that a coin will land on heads is
½ or 50%.
Type of Dominance - Complete Dominance
Occurs when the dominant allele completely masks or covers the expression of the recessive allele.
Type of Dominance - If the dominant allele is absent
the recessive trait is expressed.
Type of Dominance - Incomplete Dominance
Incomplete dominance creates a blend of the two genes. (So a guinea pig that has the codes for black and white and has incomplete dominance will be gray instead of spotted black and white as in co-dominance)
Type of Dominance - Both alleles influence the trait and express a trait
midway between the differing homozygous parents. Example: A cross between a homozygous red flowered snapdragon is crossed with a homozygous white flowered snapdragon. Will create a pink snapdragon
Type of Dominance – Codominance
Co dominance produces two dominant physical traits shared (think black and white guinea pig instead of gray – as in incomplete dominance)
Type of Dominance – Codominance is a pattern of inheritance in which
both alleles of a gene are expressed. Example: A cross between a homozygous red horse and homozygous white horse results in heterozygous offspring with both red and white hairs in approximately equal numbers, producing the mixed color called roan or spotted with both
Type of Dominance - Blood type is codominant involving
multiple alleles.
Type of Dominance - A multiple allele is
one that has three or more alleles for a trait, however, an individual can only inherit two alleles for the trait.
Type of Dominance - A capital I is used to show
multiple alleles.
Type of Dominance - Human blood types are determined by
the presence or absence of certain molecules on the surface of red blood cells.
Type of Dominance - In humans, the ABO blood groups (blood types) are
determined by three alleles: IA, IB, and i.
Type of Dominance - The IA allele produces
surface molecules A.
Type of Dominance - The IB allele produces
surface molecules B.
Type of Dominance - The i alleles produce
no surface molecules.
Type of Dominance - IA and IB alleles are both
dominant over i, Type of Dominance – i is is recessive.
Type of Dominance – Which is the most dominant IA or IB
Neither IA nor IB is dominant over the other. When IA and IB are both present in the genotype, they are codominant.
Blood Types and Genotypes in the ABO Blood Group System - Blood Type A =
AA or AO
Blood Types and Genotypes in the ABO Blood Group System - Blood Type B =
BB or BO
Blood Types and Genotypes in the ABO Blood Group System - Blood Type AB =
AB
Blood Types and Genotypes in the ABO Blood Group System - Blood Type O =
OO
Blood Types and Genotypes - When a person is B+ you are talking about two different blood grouping systems
the ABO system and the Rh system.
Blood Types and Genotypes - Rh stands for
rhesus, the type of monkey it was first studied.
Blood Types and Genotypes - Rh positive individuals have
the Rh antigen.
Blood Types and Genotypes - Rh+ is
dominant -over Rh-.
Blood Types and Genotypes - The people who are negative do not have
the Rh antigen,
Blood Types and Genotypes - Rh- people will produce
the Rh antibodies if given Rh+ blood.
Blood Types and Genotypes – Rh+ given to Rh- people is fatal?
The first transfusion will portably not cause any serious problems, but a second Rh+ transfusion can cause fatal hemolysis.
Epistasis (Polygenetic Inheritance) occurs when
Multiple genes affect one trait.
Epistasis (Polygenetic Inheritance) - Human examples include
height, hair color, skin color, body build.
Epistasis (Polygenetic Inheritance) - In Labrador retrievers several gene products affect the coat color which can be
black, yellow, or brown.
Epistasis (Polygenetic Inheritance) – Example
One gene is involved in the synthesis of the pigment melanin. A dominant allele produces black fur A recessive allele produces brown fur. On a different gene, a dominant allele causes melanin to be deposited while the recessive allele reduces melanin deposition.
Pleiotropic is
A gene that influences multiple traits.
Pleiotropic - In Marfan syndrome—a single gene lacks the ability to code for production of a normal protein called
fibrillin. The mutation affects skeletal and cardiovascular systems, lungs, eyes, and skin.
Environmental Influence – The environment can influence
Gene expression can be influenced by the environment.
Environmental Influence – Influencing factors include
hormones, temperature, nutrition, light, and chemicals.
Environmental Influence – Seasonal changes in temperature can result in
enzymatic alterations to cause changes in fur coats or feathers.
Environmental Influence – The effect of sunlight on skin causes
melanocytes to produce melanin, darkening the skin.
Environmental Influence – In hydrangeas, the gene responsible for flower color is influenced by
soil acidity. Flowers change from pink to blue.
Karyotype – is
A picture of chromosomes found in an individual’s cells arranged in order of size and shape. The nuclei of somatic cells are examined during metaphase of mitosis when the chromosomes are most visible.
Karyotype – The first 22 pairs of chromosomes are referred to as
autosomes which determine most of the traits of an organism.
Karyotype – The last pair of chromosomes are referred to as
sex chromosomes.
Karyotype – chromosomes XX =
female
Karyotype – chromosomes XY =
male
Karyotype – chromosomes Because the X and Y chromosomes are not identical they are referred to as
hemizygous chromosomes.
A karyotype is useful when
diagnosing chromosome abnormalities such as chromosome number and structure.
Karyotype – chromosomes can or cannot be used to study genes on chromosomes
A karyotype can not be used to study individual genes on chromosomes.
Chromosomal Mutations - Mutations are
changes in chromosomes or genes that, if occurring in the gametes, can be passed on to offspring.
Chromosomal Mutations - Changes in chromosomal structure can increase due to
environmental factors such as radiation, chemicals, and viruses.
Chromosomal Mutations - Structural changes in chromosomes: Inversion
A segment that has become separated from the chromosome is reinserted at the same place but in reverse.
Chromosomal Mutations - Structural changes in chromosomes: Translocation
A chromosomal segment is removed from one chromosome and inserted into another.
Chromosomal Mutations - Structural changes in chromosomes: Deletion
A type of mutation in which an end of a chromosome breaks off or when two simultaneous breaks lead to the loss of a segment.
Chromosomal Mutations - Structural changes in chromosomes: Duplication
A doubling of a chromosomal segment.
Chromosomal Mutations - Changes in chromosome number is called
Aneuploidy
Chromosomal Mutations – Aneuploidy usually results from
nondisjunction.
Chromosomal Mutations – Nondisjunction means
homologous chromosome pairs fail to separate during meiosis I or meiosis II causing both chromosomes to go to the same daughter cell.
Chromosomal Mutations – Aneuploid results in
One daughter cell will have two copies and the other cell lacks the chromosome.
Chromosomal Mutations – Monosomy occurs when
an individual has only one of a particular type of chromosome.
Chromosomal Mutations – When is monosomy fatal
In animals, monosomy is usually fatal when it occurs on autosomes.
Chromosomal Mutations - Turner syndrome (XO) occurs in
sex chromosomes and is a monosomy mutation.
Chromosomal Mutations - Trisomy Occurs when
an individual has three of a particular chromosome.
Chromosomal Mutations Trisomy - the most common trisomy in humans. It occurs on the 21st chromosome
Down syndrome (trisomy 21)
Chromosomal Mutations - Klinefelter syndrome (XXY) and “Super male” or Jacob’s disease both occur in
sex chromosomes and are Trisomy mutations
Chromosomal Mutations - Polyploidy occurs when
the offspring end up with more than two complete sets of chromosomes.
Chromosomal Mutations – polyploidy is the basis for
hybridization and is probably involved in almost 50% of flowering plants and major crops.
Chromosomal Mutations – Polyploidy is universally
fatal in animals.
Chromosomal Mutations - About 1/4 of all recognized pregnancies result in spontaneous abortion (miscarriage). Most of these seem to be due to
chromosomal abnormalities.
Autosomal Chromosome Disorders - Autosomal Dominant Genetic Disorders are caused by
a dominant allele on an autosomal chromosome so it tends to appear in every generation.
Autosomal Chromosome Disorders - Examples of Autosomal Dominant Genetic Disorders include
Huntington’s disease and Achondroplasia
Autosomal Chromosome Disorders - Exercise: If a man is heterozygous for Huntington’s Disease and the woman is free of the disease, what are the chances of the offspring having the disease?
50% Hh x hh draw Pennet square to support.
Autosomal Chromosome Disorders - Autosomal Recessive Genetic Disorders are caused by
a recessive allele on an autosomal chromosome.
Autosomal Chromosome Disorders - Autosomal Recessive Genetic Disordered Individuals must be
homozygous recessive to display the disorder.
Examples of Autosomal Recessive Genetic Disorders include
Sickle cell anemia, Cystic Fibrosis, Phenylketonua (PKU), and Galactosemia
Autosomal Recessive Genetic Disorders Exercise: a woman who is a carrier sickle cell has children with a man who is free of the disease. What are the chances of the couple having a child with sickle cell anemia?
0% Ss x SS Draw Pennet square to support
Sex-linked (X-linked) Traits –the 23rd pair of chromosomes (sex chromosomes)differs in
males and females.
Sex-linked (X-linked) Traits – What is the SRY gene?
Y is the master gene for male sex determination.
Sex-linked (X-linked) Traits – The Y chromosomes the
SRY gene
Sex-linked (X-linked) Traits – Expression in XY embryos results in
the formation of the testes.
Sex-linked (X-linked) Traits – Absence of expression of the SRY gene in embryos results in
females/the formation of ovaries.
Sex-linked (X-linked) Traits – The X chromosome includes some genes associated with
sexual traits and many genes for nonsexual traits.
Sex-linked (X-linked) Traits – Genetic disorders that are part of the X chromosome are known as
sex-linked genetic disorders.
Sex-linked (X-linked) Traits – Sex-linked genetic disorders are expressed in
both males and females.
Sex-linked (X-linked) Traits – Sex-linked genetic disorders on the X chromosome do or do not have matching genes on the Y chromosome?
Sex linked genetic disorders do not have matching genes on the Y chromosome
Sex-linked (X-linked) Traits – even though sex-linked genetic disorders are expressed in both males in females, they tend to show up more often in
males than females.
Sex-Linked Recessive Disorders - Examples of sex-linked recessive disorders include
Hemophilia A, Red-Green Color Blindness, and Duchenne Muscular Dystrophy (DMD)
Sex-Linked Recessive Disorders - Exercise: A man that does not have hemophilia has a child with a woman that is a carrier for the trait. What percentage of the male and female children will have hemophilia?
XY x XcX Possible offspring Male % chance: 50% Female % chance: 0% draw pennet square to support
Sex-Linked Recessive Disorders - Exercise: Suppose a man with red-green color blindness has a child with a woman that is homozygous for normal vision. State the genotypes and phenotypes of their offspring.
XcY x XX Possible offspring Genotype: 2XcX 2XY Phenotype: 2carrier female 2 normal male draw pennet square to support
Genetic Screening – Types of Genetic Screening
Amniocentesis, Chorionic Villus Sampling (CVS) and Pedigrees
Genetic Screening – Amniocentesis involves
drawing off a sample of amniotic fluid which surrounds the fetus. Fetal cells present in the fluid can be grown in vitro and studied for genetic abnormalities.
Genetic Screening – Amnioscentesis is especially useful in screening for such conditions as
Down syndrome and Tay-Sachs disease.
Genetic Screening – Chorionic Villus Sampling (CVS) is accomplished by
inserting a probe through the vagina and cervix and into the uterus. Cells are then removed from the developing placental membrane and studied.
Genetic Screening – Pedigrees are
A family tree record showing inheritance patterns over several generations.
Genetic Screening – Pedigrees are helpful if
the trait is a genetic disorder and the family wants to know if they are carriers or if their children might get the disorder.
Genetic Screening – If the pedigree shows a genetic trait that appears in every generation of offspring it is
dominant.
Genetic Screening – Pedigrees A trait is most likely autosomal if
it appears in both sexes equally.
Genetic Screening – Pedigrees If the trait shows up mainly in males, it is considered to be
sex-linked.
Genetic Screening –Squares are male circles are female on
pedigree chart
Personal DNA - 99% of your DNA is
exactly the same as everyone else’s DNA
Personal DNA - A single nucleotide polymorphism (SNP) is
a one-base DNA sequence variation
Personal DNA – SNP’s are carried by
a measurable percentage of the population.
Personal DNA - SNPs provide humans with many of the
differences in humans.
Personal DNA – SNP’s are important because
it helps to determine how we age, respond to drugs, respond to pathogens and toxins, etc. Knowledge of this could help with advanced medical treatment by encouraging people with a predisposition to certain disease to act early.
Personal DNA - SNPs are so unique they can be used to
identify an individual.
Personal DNA – Using SNP’s to identify an individual is called
DNA profiling.
Personal DNA - DNA profiling can be used in:
a. Familial connections b. Criminal investigations c. Identifying remains
Genetic Engineering – is a process by which
deliberate changes are introduced into an individual’s gnome.
Genetic Engineering – Recombinant DNA Technology allows
strands of DNA to be transferred from the cells of one species into cells of another species.
Genetic Engineering – Step 1. Of Recombinant DNA Technology
Restriction enzymes are used to cut DNA to isolate the gene of interest as well as to cut DNA from the vector.
Genetic Engineering – Recombinant DNA Technology Restriction enzymes
a type of enzyme that cuts specific nucleotide sequences in DNA. Scientist discovered some bacteria were resistant to bacteriophages. Special enzymes inside these bacteria chop up any injected viral DNA before it has a chance to integrate into the bacterial chromosomes. Since the enzymes restrict viral growth they are named restriction enzymes and part of step 1 of Recombinant DNA Technology
Genetic Engineering – Recombinant DNA Technology Gene of interest
the trait scientists would like to transfer to another organism. Ex: disease resistance in tomatoes, insulin, hormones. part of step 1 of Recombinant DNA Technology
Genetic Engineering – Recombinant DNA Technology Vector
organisms usually bacteria or yeast that will replicate the gene quickly. part of step 1 of Recombinant DNA Technology
Genetic Engineering – Step 2 Of Recombinant DNA Technology
The gene of interest is then inserted into the vector
Genetic Engineering – The vector makes multiple copies of
itself replicating the gene at the same time. Part of step 2 of Recombinant DNA Technology
Genetic Engineering – The DNA at this point is called
recombinant DNA.
Genetic Engineering – Recombinant DNA is
DNA that has genetic material from more than one organism.
Genetic Engineering – The organism is known as
a genetically modified organism (GMO).
Genetic Engineering – Plants are increasingly becoming
GMOs.
Genetic Engineering – GMO’s Crop production utilizes a lot of
fertilizers and pesticides which runs off into waterways. Because of pressure from environmental agencies as well as the public for cheaper and more environmentally friendly food, plants have been injected with genes that allow them to be resistant to drought, disease, insects, and to increase their nutrition.
Genetic Engineering – Animals are also
transgenic. Mice were the first transgenic animals and are used in research. Other transgenic animals include goats, rabbits, pigs, and cows.
Genetic Engineering – Polymerase Chain Reaction (PCR) can make
millions of copies of DNA fragments within a few hours.
Genetic Engineering – Polymerase Chain Reaction (PCR) is
a piece of DNA targeted and mixed with DNA polymerase, nucleotides, and primers.
Genetic Engineering – PCR Primers are
short single strands of DNA that base-pair with a certain DNA sequence.
Genetic Engineering – PCR mixture is then
cycled between high and low temperatures.
Genetic Engineering – PCR mixture utilizes High temperatures to
break the hydrogen bonds that hold the two strands of DNA double helix together, making the DNA single stranded.
Genetic Engineering – Once the DNA is single stranded the temperature is then lowered and nucleotides are added to
the single strand making a double strand.
Genetic Engineering – The cycling of the mixture between high ad low temps is
repeated so this happens over and over.
The Genome and DNA Sequencing - A genome is
an organism’s complete set of genetic material.
The Genome and DNA Sequencing - DNA sequencing is
a method of determining the order of nucleotides in DNA.
The Genome and DNA Sequencing Step 1– In DNA sequencing a single strand of DNA is
mixed with nucleotides, primer, and DNA polymerase creating a mixture.
The Genome and DNA Sequencing Step 1 – The nucleotides in this mixture contain
both regular nucleotides as well as dideoxynucleotides
The Genome and DNA Sequencing Step 1 - What is the purpose of dideoxynucleotides in the mixture
to stop the DNA from continuing replication.
The Genome and DNA Sequencing Step 1 - The dideoxynucleotides are labeled with
different colored pigments. Different colors are used for each of the four bases.
The Genome and DNA Sequencing Step 2 - Starting at the primer, the polymerase
joins free nucleotides into new complementary strands of different lengths of DNA.
The Genome and DNA Sequencing Step 2 - During the process, polymerase randomly adds
either a regular nucleotide or a dideoxynucleotide to the end of a growing DNA strands.
The Genome and DNA Sequencing Step 2 - DNA synthesis ends where there is
a dideoxynucleotide added making many segments of different lengths.
The Genome and DNA Sequencing Step 2 - At the end of each segment is
a colored dideoxynucleotide.
The Genome and DNA Sequencing Step 3 – Electrophoresis separates
the fragments using electric fields.
The Genome and DNA Sequencing Step 3 – Smaller fragments move
faster through the gel. All fragments of the same length move from the gel at the same speed so they gather into bands.
The Genome and DNA Sequencing Step 3 – Gel electrophoresis is also used in
criminal and paternity cases:
The Human Genome Project was
an attempt to sequence all 3 billion of the bases found in the human genome.
The Genome and DNA Sequencing Step 3 – All fragments in a given band have.
the same dideoxynulceotide at their ends and the pigment labels now impart different colors to the bands
The Genome and DNA Sequencing Step 3 – These colors are analyzed by
a computer and the DNA sequence is produced.
The Human Genome Project - It took 15 years to originally map
the human genome.
The Human Genome Project – How long does it take to map the human genome today
It can now be down in a matter of a few weeks.
The Human Genome Project - The hope is to use the mapped information to
improve prenatal disorders.
The Human Genome Project - The next step in the Human Genome Project is
gene therapy
The Human Genome Project - Gene therapy is
the transfer of recombinant DNA into an individual’s body cells, with the intent to correct a genetic defect or treat a disease.
The Human Genome Project – Gene therapy is currently being tested to treat
heart attacks, sickle cell anemia, cystic fibrosis, hemophilia A, Parkinson’s disease, Alzheimer’s disease, several types of cancer, and inherited disease of the eye, ear, and immune system.