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Gene Mutations. 3-4-14. Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are actual pictures of human and animal X-linked diseases. Bell Work: DISCUSSION QUESTION!
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Gene Mutations 3-4-14
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are actual pictures of human and animal X-linked diseases. Bell Work: DISCUSSION QUESTION! What does it mean when I say it is an X-linked disease? NO JOURNALS TODAY!!! Inherited Genetic Disorders
Bell Work Answer • It means the disease is given by the X chromosome, which is the mom. The dad in this case is not a carrier of the disease.
3-4-14 Review • Name a disease you will find on an X-linked chromosome. • Examples: Color Blindness and Hemophilia.
3-4-14 Objective: • I will explore how some diseases are on the X chromosome and some diseases are mutations. • HW: None
He stumped physicians for 100 years Joseph's storyWhen he was two years old, his mother noticed that some areas of his skin began to change. Some darkened, discolored skin growths were appearing, and they began to look bumpy and rough. Lumps began to grow under the boy's skin--on his neck, his chest, and the back of his head. Mary Jane Merrick began to worry about her son, Joseph. The other boys were starting to make fun of him. As Joseph grew older, he began to look even more strange. The right side of his head began to grow, as did his right arm and hand. By the time he was 12 years old, Joseph's hand was so deformed as to be useless. The growths on his skin were now large and repulsive to look at. Joseph Merrick the Elephant Man
The end of the storyMore than anything, Joseph Merrick wanted to be like other people. He often wished he could lie down and sleep, but because of the size and weight of his head he had to sleep sitting up. One morning in 1890 he was found lying down in bed on his back, dead. The weight of his head had crushed his windpipe, and he suffocated. He was 28 years old.
By far, the most common skeletal dysplasia is achondroplasia, a short-limb dysplasia that occurs in about 1 of every 26,000 to 40,000 babies of all races and ethnicities. It can be caused by a spontaneous mutation in one gene or a child can inherit the gene from a parent who has achondroplasia. People with achondroplasia have a relatively long trunk and shortened upper parts of their arms and legs. They may share other features as well, such as a large head with a prominent forehead, a flattened bridge of the nose, shortened hands and fingers, and reduced muscle tone. The average adult height for someone with achondroplasia is about 4 feet.
Wolf-Hirschhorn Syndrome Result of chromosome 4 error Wolf-Hirschhorn syndrome is the result of a genetic error on chromosome 4. In 87% percent of individuals, there is no family history of the disorder. Wolf-Hirschhorn syndrome affects females more frequently than males, and occurs in people of all ethnic backgrounds. It is estimated to occur in 1 in 50,000 births. SymptomsWolf-Hirschhorn syndrome causes malformations in most parts of the body because the genetic error affects fetal growth and development.
It is possible that other medical conditions also aided the werewolf legend. Individuals that suffer from the genetic disorder known as hypertrichosis or other similar diseases may grow hair all over their bodies, especially on the upper torso and face. Someone not knowing about this condition might easily mistake such an affected individual for a werewolf.
Gilberto is a 15-month-old boy who, from behind, looks like every other child his age. But one look at his face and his heartbreaking condition becomes strikingly apparent. Gilberto and his family suffer from hypertrichosis, a genetic disorder sometimes referred to as "Wolf Syndrome" because the entire body is covered with hair. Inside Edition's Jim Moret traveled to Monterrey, Mexico to meet Gilberto and his uncles Rodolpho and Alvaro, who also suffer from the disorder. Rodolpho and Alvaro's 19-year-old sister Nancy, who is also Gilberto's mother, does not suffer from the condition since it only affects men.
Rodolpho and Alvaro have to shave their entire faces each day and still receive strange looks and stares from other people. It's a fate Nancy worries her son will also face as he grows older. Inside Edition spoke with Angela Cristiano, a genetics expert at Columbia University in New York, about just how rare the condition was. "Genetic forms of hypertrichosis are actually very rare numbers, as rare as one in a billion," she said. Tragically there is no cure for this devastating condition, and to make matters worse, Gilberto and his uncles are also deaf. However there are glimmers of hope for the family. Doctor Julio Salas, a dermatologist who has been treating the family, says that laser treatments will be able to remove some of the excessive hair. Gilberto isn't old enough for the treatments yet, but Nancy hopes that someday he will be able to benefit from them. In the meantime, the family is hoping to save up enough money for a cochlear implant so that Gilberto can hear, and one day, might have a chance of leading a normal life.
Wolf Boy Wedding Larry Gomez, who suffers from werewolf syndrome and is covered from head to foot with thick dark fur, was recently married and he and his wife now have a new baby!
Syndactyly Webbed toes and fingers are present at birth (congenital). In early fetal development, webbing (syndactyly) of the toes and fingers is normal. At about 16 weeks of gestation, the toes and fingers usually separate and the webbing disappears. But in some fetuses, this separation doesn't occur. The exact cause isn't known.
Twelve Fingers Believe it or not, Godfrey Hill of Nottingham, England was born with 6 fully functional and healthy digits on each hand. A man with 7 fingers on each hand, apparently from a village of people who all shared this bizarre attribute.
albinism Genetic condition caused by the body's inability to manufacture pigments; an autosomal recessive trait. the lack of pigmentation in skin, hair, and eyes, is also a Mendelian human trait. Homozygous recessive (aa) individuals make no pigments, and so have face, hair, and eyes that are white to yellow. For heterozygous parents with normal pigmentation (Aa), two different types of gametes may be produced: A or a. From such a cross 1/4 of the children could be albinos. The brown pigment melanin cannot be made by albinos. Several mutations may cause albinism: 1) the lack of one or another enzyme along the melanin-producing pathway; or 2) the inability of the enzyme to enter the pigment cells and convert the amino acid tyrosine into melanin.
Color Blind The cones, each contain a light sensitive pigment which is sensitive over a range of wavelengths (each visible color is a different wavelength from approximately 400 to 700 nm). Genes contain the coding instructions for these pigments, and if the coding instructions are wrong, then the wrong pigments will be produced, and the cones will be sensitive to different wavelengths of light (resulting in a color deficiency). The colors that we see are completely dependent on the sensitivity ranges of those pigments.
Manar was born with a rare condition known as craniopagus parasiticus, which occurs when an embryo begins to split into identical twins but fails to complete the process. One of the conjoined twins fails to develop fully in the womb.
Marfan's Syndrome Definition Marfan's syndrome is a genetically inherited connective tissue disease that appears in 4-6 of every 100,000 people. There is 50% incidence of transmittance to offspring, with no sex-linked characteristics. Marfan's syndrome causes deformations and defects in several body systems, most notably the ocular, skeletal, and cardiovascular. Diagnosis is based only upon clinical observation, with symptoms of two or more of the common conditions required for confirmation.
Marfan Syndrome An adult with Marfan syndrome. Note tall and thin build, disproportionately long arms and legs, and kyphoscoliosis.
Bob Huddleston - The Pony Boy • Bob Huddleston had obscure backwards knees and elbows preventing him from being able to walk upright. Instead he'd walk on all fours using wooden blocks to protect his hands. He traveled with Tom Mix and Ted Metz circuses and was in the movie Time Travelers in 1964.
Clifton Gerry • Worlds most flexible backbending male. One of the worlds most flexible backbenders, male or female
Girl with Turner Syndrome - Clinical PresentationGirls with Turner syndrome usually come to medical attention in their early teens because they fail to enter puberty. Note, in addition to the highlighted features above, that this teenaged girl has no breast development. Also note the characteristic short stature of Turner syndrome by comparing her shoulder level to the level of the doorknob and the examining table.
Trisomy 13 Polydactyly, particularly of all extremities, strongly suggests trisomy 13. Extra toes are seen here on each foot. An extra finger (polydactyly) is present on this hand of an infant with trisomy 13. This baby with trisomy 13 has cyclopia (single eye) with a proboscis (the projecting tissue just above the eye).
Cystic Fibrosis (CF) is a genetic disease that produces abnormally thick mucous that blocks the glands and other areas in the body. The lungs and pancreas are the two vital organs that are affected. The symptoms are chronic coughing, digestive problems, and recurrent pneumonia. Many hours of daily treatment, special nutrition, antibiotics and other medications, become a way of life for CF children and their families. As you can imagine, it takes its toll emotionally, physically and financially.
Mistakes in the process of meiosis can result in a new organism with more or fewer chromosomes than normal. Individual with Down’s Syndrome have an extra copy of chromosome twenty-one. This results in a variety of physical and/or mental conditions.
Many genetic disorders are caused by recessive genes. If an offspring receives two recessive alleles from parents, the child inherits the disease. If a person is heterozygous, he/she does not show the symptoms. Sickle cell anemia is one such disease. It results from a substitution at the base level of DNA. It commonly affects people of African, Indian, and Mediterranean descent. The disease causes the red blood cells to become sickle-shaped. This prevents the blood from passing normally through the capillaries, resulting in oxygen not being passed on to the tissues.
As the features of LOTS develop, they can include: • Speech difficulties; • Difficulty in comprehension; • Memory impairment; • Muscle twitching, wasting and weakness; • Movement problems such as dystonia (see entry); • Behaviour changes, short attention span and personality changes; • Depression and psychotic episodes in a number of affected individuals Tay-Sachs disease: Affects Jewish people of Eastern Europe Ancestry Progressive muscular degeneration death by age 6 or so
Closure: • What if we could cross genes of different species? What would they look like?
Long Term Review: • What are living things?
