Genetics

Experimental genetics began in an abbey garden

The modern science of genetics began in the 1860s when a monk named Gregor Mandel deduced the fundamental principles of genetics by breeding garden peas.

Mendel lived and worked in an abbey in Austria.

Strongly influenced by his study of physics, mathematics, and chemistry at the University of Vienna, his research was both experimentally and mathematically rigorous, and these qualities were largely responsible for his success.

Mendel In a paper published in 1866,

Mendel correctly argued that parents pass on to their offspring discrete hereditary factors.

He stressed that these hereditary factors (today called genes) retained their individuality generation after generation.

In other words genes are like marbles of different colors: just as marbles retain their colors permanently and do not blend, no matter how they are mixed, genes permanently retain their identities.

Mendel

Mendel probably chose to study garden peas because he was familiar with them from his rural upbringing, they were easy to grow, and they came in many readily distinguishable varieties.

Perhaps most importantly, Mendel was able to exercise strict control over pea plant matings.

Mendel

The petals of the pea flower almost completely enclose the reproductive organs.

Consequently, pea plants usually self-fertilize in nature. That is, pollen grains land on the egg of the same flower.

Mendel

Mendel could ensure self-fertilization by covering a flower with a small bag so that no pollen from another plant could reach the egg.

When he wanted cross-fertilization (fertilization of one plant by pollen from a different plant), he used a particular method so that he could be sure of the heritage of the new plants.

Mendel

Mendel worked with his plants until he was sure he had true breeding varieties-- that is, varieties for which self fertilization produced offspring all identical to the parent In other words, a “pure-bred” plant).

For instance, he identified a purple flowered variety that produced offspring plants that all had purple flowers.

Hybridization

Now Mendel was ready to ask what would happen when he crossed his different true breeding varieties with each other.

For example, what offspring would result if plants with purple flowers and plants with white flowers were cross fertilized?

In the language of the plant and animal breeders and geneticists, the offspring of two different varieties are called hybrids, and the cross-fertilization itself is referred to as hybridization, or simply a cross.

Hybridization

The true breeding parental plants are called the P generation and their hybrid offspring are the F1 generation.

The offspring of F1 plants are known as the F2 generation.

HEREDITARY PHYSICAL CHARACTERISTICS Genotype and Phenotype Genotype means the type of genes a person

has, or their genetic make-up. Those genes that affect the same trait are

called alleles. A dominant allele is given a capital letter, and a

recessive allele is given the same letter in lower case.

For instance, having an earlobe that is unattached to the face is a dominant trait, so we can call it E.

An attached earlobe would then be called e.

Alleles

Alleles occur in pairs; just as one pair of each type of chromosome is inherited from each parent, so too each pair of alleles inherited from each parent.

The allele which is traditionally indicated by an uppercase (capital) letter is the dominant trait.

The allele which is traditionally indicated by a lowercase (small) letter is the recessive trait.

Homozygous

If a sperm cell has e and the egg cell has e, the offspring must have ee.

That is called homozygous (pure) recessive. That means the person would have an attached

earlobe. If a sperm cell has E and the egg cell has E, the

offspring must have EE. This is called homozygous (pure) dominant.

That means the person would have an unattached earlobe.

Homozygous

The term for “pure” is homo. It refers to something being the same.

In the old days, you had to shake up milk because the cream would rise to the top. Nowadays, people want less fat, so the cream is removed before you get it; this is called homogenized milk.

A homogenized mixture is one that is the same throughout, and requires no periodic mixing.

Therefore, when the allele pairs are either EE or ee, they are homozygous.

Heterozygous

The opposite of homo is “hetero”, so an allele pair that is “Ee” is heterozygous.

If one of the sex cells has E and the other sex cell has e, what will the offspring have? Ee.

What type of earlobe will they have? Attached. Why? Because the dominant trait is stronger, so if it is present at all, it will manifest.

Phenotype

The physical appearance of a person is called the phenotype.

A person with Ee will therefore be called a heterozygous genotype, with an unattached earlobe phenotype.

Sample Problems

What earlobe alleles will a person have who is homozygous recessive? ee

What earlobe alleles will a person have who is homozygous dominant? EE

What earlobe alleles will a person have who is heterozygous? Ee

Figuring the Odds

If one of the parents is homozygous dominant (EE), the chances of their having a child with unattached earlobes is 100 %, because this parent has only a dominant allele (E) to pass on to the offspring.

On the other hand, if both parents are homozygous recessive (cc), there is a 100% chance that each of their children will have attached earlobes.

Figuring the Odds

However, if both parents are heterozygous, then what are the chances that their child will have unattached or attached earlobes?

To solve a problem of this type, it is customary first make a table (Punnit Square) of the genotype of the parents and their possible gametes.

Punnit Square

E e

E EE Ee

e Ee ee

Figuring the Odds

That means that when Harry meets Sally, their child has a 25% chance (1:3) of being ee, and 25% chance of being EE, and 50% chance (1:1) of being Ee.

But that’s just the genotype. What about the phenotype (what will the child look like)?

There is a 75% chance (3:1) of having an attached earlobe (ee).

Sample Test Questions

In crossing a heterozygous parent and a homozygous recessive parent, what are the chances that an offspring will receive a dominant allele?

Answer = 50%

Sample Test Questions

What is the ratio for crossing two heterozygous parents for ear lobe attachment

(Ee x Ee): 3:1

Sample Test Questions

Free earlobes (E) are dominant over attached earlobes (e).

If two people with homozygous attached earlobes mate, what will be the phenotype of their offspring?

All attached earlobes

Sample Test Questions

What is the ratio for crossing a heterozygous parent for ear lobe attachment and a homozygous recessive parent (Ee x ee):

1:1

Sample Test Questions

In crossing two heterozygous parents, what are the chances for a pure recessive offspring?

25%

1. Chromosome Disorders 2. Sex Chromosomal Disorders 3. Dominant Disorders 4. Homozygous Recessive Disorders 5. Incompletely Dominant Traits 6. Sex-Linked Traits 7. Sex-Influenced Traits

GENETIC DISORDERS

Down Syndrome

Down syndrome is also called trisomy 21 because the person’s chromosome number 21 has three chromosomes joined together instead of just two.

The chances of a woman having a Down syndrome child increase rapidly with age, starting at about age 40.

The frequency of Down syndrome is 1/ 800 births for mothers under 40 years of age, but women over 40 are 10 times more likely to have a Down syndrome child.

Down Syndrome

Characteristics of Down syndrome include a short stature; an eyelid fold; stubby fingers; a wide gap between the first and second toes; a large, fissured tongue; a round head; a palm crease (the so-called simian line), and mental retardation, which can sometimes be severe.

Down Syndrome

Their personalities are usually cheerful, good-natured, and pleasant throughout their lives.

Amniocentesis

Removing fluid and cells from the amniotic sac surrounding the fetus, followed by karyotyping can detect a Down syndrome child.

Scientists have located genes most likely responsible for the increased tendency toward leukemia, cataracts, accelerated rate of aging, and mental retardation.

One day it might be possible to control the expression of that gene even before birth so that at least this symptom of Down syndrome does not appear.

Amniocentesis

Sex Chromosomal Disorders

All of the cells in our body have all of our chromosomes in the nucleus except for the egg and the sperm.

Each of these has all of our chromosomes in the nucleus, except there is only one of the two sex chromosomes.

Since women are XX, all of her egg cells are X, but since males are XY, a sperm can bear an X or a Y.

Therefore, the sex of the newborn child is determined by the father.

If a Y- bearing sperm fertilizes the egg, then the XY combination results in a male.

On the other hand, if an X-bearing sperm fertilizes the egg, the XX combination results in a female.

Chromosomal Disorders

All factors being equal, there is a 50% chance of having a girl or a boy.

If a couple has 10 children and they are all boys, what is the chance that an eleventh child is going to be a boy?

Interestingly, the death rate among males is higher than for females.

By age 85, there are twice as many females as males.

Jacob syndrome

occurs in 1/ 1,000 births. These XYY (an extra male chromosome) males

are usually taller than average, suffer from persistent acne, and tend to have speech and reading problems.

At one time, it was suggested that these men were likely to be criminally aggressive, but it has since been shown that the incidence of such behavior among them may be no greater than among XY males.

Klinefelter syndrome

occurs in 1/ 1,500 births. These males with XXY (an extra female

chromosome) and they are sterile. They are males with some female

characteristics. The testes are underdeveloped, they have

some breast development, and there is no facial hair.

They are usually slow to learn but not mentally retarded.

Klinefelter syndrome

Triple-X syndrome

occurs in 1/ 1,500 births. These are females with an extra female

chromosome: XXX. You might think they are especially feminine,

but this is not the case. Although in some cases there is a tendency

toward learning disabilities, most have no physical abnormalities except that they may have learning disabilities, menstrual irregularities, including early onset of menopause.

Turner syndrome

occurs in 1/ 6,000 births. The individual is XO, meaning one of the sex

chromosomes is missing. These are females and have a short, have a

broad chest, and webbed neck. The ovaries and uterus are nonfunctional.

Turner females do not undergo puberty or menstruate, and there is a lack of breast development.

They are usually of normal intelligence and can lead fairly normal lives, but they are infertile even if they receive hormone supplements.

Turner’s Syndrome

Dominant Disorders: Neurofibromatosis Also known as Elephant Man disease, this is one of the

most common genetic disorders. It affects roughly 1/ 3,000 people. It is seen equally in every racial and ethnic group

throughout the world. At birth or later, the affected individual may have six or

more “coffee with milk” colored spots (known as cafe-au-lait) on the skin.

Such spots may increase in size and number and may get darker.

Small benign tumors (lumps) called neurofibromas may occur under the skin or in various organs.

Neurofibromatosis

Neurofibromatosis

In most cases, symptoms are mild, and patients live a normal life.

In some cases, however, the effects are severe. Skeletal deformities, including a large head, are

seen, and eye and ear tumors can lead to blindness and hearing loss.

Many children with neurofibromatosis have learning disabilities and are hyperactive.

The abnormal gene is on chromosome 17.

Homozygous Recessive Disorders: Tay - Sachs disease

This disease usually occurs among Jewish people. At first, it is not apparent that a baby has Tay-Sachs

disease. However, development begins to slow down between

four months and eight months of age, and neurological impairment and psychomotor difficulties then become apparent.

The child gradually becomes blind and helpless, develops uncontrollable seizures, and eventually becomes paralyzed.

There is no treatment or cure for Tay- Sachs disease, and most affected individuals die by the age of three or four.

It is caused by a genetic enzyme deficiency.

Cystic Fibrosis This is the most common lethal genetic

disease among Caucasians in the United States.

About 1 in 20 Caucasians is a carrier, and about 1/ 2,500 births have the disorder.

In these children, the mucus in the bronchial tubes is particularly thick and interferes with breathing, and the lungs get infected frequently.

New treatments have raised the average life expectancy to 28 years of age.

The cystic fibrosis gene is located on chromosome 7.

Phenylketonuria (PKU)

This occurs in 1 / 5,000 births, so it is not as frequent as the disorders previously discussed, however, PKU is tested for in routine blood screenings of all newborns in the United States.

This is the disease that offspring of first cousins are more likely to get.

PKU people lack an enzyme that is needed to break down an amino acid (phenylalanine), and so the amino acid accumulates in the urine.

These people have to have a special diet that does not contain that amino acid.

If they get too much of it, they will get neurological problems and mental retardation.

That’s why nutrition labels have to warn when they contain phenylalanine.

Incompletely Dominant Traits

Incomplete dominance is exhibited when there is an intermediate phenotype.

These people can be carriers of a disorder without being sick themselves.

Their children may have the disorder, or they also may be carriers.

When they are carriers, they are said to have the “trait” of the disorder, but not the disease.

Sickle-Cell Disease

This is an incompletely dominant disorder.

In persons with sickle-cell disease, the red blood cells aren’t round disks like normal red blood cells; they are irregular.

In fact, many are sickle shaped, like a banana with points on both ends.

The red blood cells do not carry oxygen well, and they get stuck in arteries also.

Sickle-Cell Disease

Sickle-Cell Disease

Therefore, they suffer from poor circulation, anemia, poor resistance to infection, internal bleeding, pain in the abdomen and joints, and damage to internal organs.

In malaria-infested Africa, infants with sickle-cell disease die (they got a bad chromosome from both parents), but infants with sickle-cell trait (they got a bad chromosome from only one parent) actually have better resistance to malaria than a normal human being.

Sickle-Cell Disease

The malaria parasite normally reproduces inside red blood cells.

But a red blood cell of a sickle-cell trait infant kills the parasite.

Therefore, the only people who survive in Africa well are those with sickle cell trait.

That’s why about 60% of the population in malaria-infested regions of Africa has sickle cell trait.

Unfortunately, 25% of their offspring can get the sickle cell disease.

Malaria

Sex-Linked Traits

Traits controlled by alleles on the sex chromosomes are said to be sex-linked; an allele that is only on the X chromosome is X-linked, and an allele that is only on the Y chromosome is Y-linked.

Most sex-linked alleles are on the X chromosome since it is larger.

All of the following disorders are sex-linked.

X-Linked Disorders

X-linked conditions can be dominant or recessive, but most known are recessive.

More males than females have the following diseases / traits.

If a male has an X-linked condition, his daughters are often carriers, so her male children are also likely to have the condition.

Male Pattern baldness

From a gene that is inherited from the mother. For you guys, if your mother’s father was bald, you are more likely to be bald. It doesn’t matter if your father is bald or if his father is bald. You get the baldness gene from your mother’s father.

X-linked Recessive Disorders

Three well-known X-linked recessive disorders (more common in males than females) are color blindness, muscular dystrophy, and hemophilia.

Color Blindness

In the human eye, there are three different types of cone cells (remember, they sense color vision).

These different types are sensitive to either the color red, green, or blue.

The gene for the red and green cells is on the X chromosome.

COLOR BLINDNESS TEST

About 8% of Caucasian men have red-green color blindness.

Opticians have special charts by which they detect those who are color blind.

Muscular Dystrophy

As you can tell by the name, this disease is characterized by a wasting away of the muscles.

The most common form is X-linked and occurs in about 1/ 3,600 male births.

Symptoms, such as waddling gait, toe walking, frequent falls, and difficulty in rising, may appear as soon as the child starts to walk.

Muscle weakness progresses to the point where they need a wheelchair.

Death usually occurs by age 20; therefore, affected males are rarely fathers.

The disease is from a carrier mother to carrier daughter.

Hemophilia

About 1/10,000 males is a hemophiliac. It is due to the absence of a clotting factor. It is called the bleeder’s disease because the

blood does not clot. Every time they get a bruise, they have to have

either a blood transfusion or an injection of a clotting protein, which they keep in their refrigerator since they need it so often.

Hemophilia

In the early 1900’s, hemophilia was prevalent among the royal families of Europe, and all of the affected males could trace their ancestry to Queen Victoria of England.

Of her 26 grandchildren, five grandsons had hemophilia and four granddaughters were carriers.

Because none of Queen Victoria’s forbearers or relatives were affected, it seems that the faulty allele she carried arose by mutation either in Victoria or in one of her parents.

Hemophilia

Her carrier daughters, Alice and Beatrice, introduced the gene into the ruling houses of Russia and Spain, respectively.

Alexis, the last heir to the Russian throne before the Russian Revolution, was a hemophiliac.

There are no hemophiliacs in the present British royal family because Victoria’s eldest son, King Edward VII, did not receive the gene and therefore could not pass it on to any of his descendants.

Sex-Influenced Traits

The length of the index finger is sex-influenced.

In females, an index finger longer than the fourth finger (ring finger) is dominant.

In males, an index finger longer than the fourth finger seems to be recessive.

Stem Cell Research: Discussion

Genetic Testing for Cancer Genes: Discussion

Choosing Gender: Discussion

Designer Children: Discussion

Designer Children

Designer Children

Designer Children

Designer Children

Designer Children

Reproductive and Therapeutic Cloning: Discussion

We are half way through the course!