These disorders cannot be cured but are not contagious

Slides:



Advertisements
Similar presentations
Pedigrees and Karyotyping Analyzing Inheritance Patterns and Chromosomes.
Advertisements

14.1 Human Chromosomes What makes us human? What makes us different from other animals such as a chimpanzee? About 1% of our DNA differs from a chimp.
NOTES 24 – Genetic Disorders and Hereditary Diseases
Inheritance of Genetic Traits
 What’s a “mutagen”?  What does a mutation do to DNA?  If a mutation affects a gene, then what might happen to the protein sequence?
Human Genetic Disorders
Human genetic disorders
Human Genetics Chapter 14 in the Textbook.
INHERITED GENETIC DISORDERS
Vocabulary and Graphic Organizers
Hemoglobin. Sickle cell anemia is a genetic blood disorder, caused by a single mutation in the gene for hemoglobin. It is found primarily in people of.
Chapter 12.  Humans have 46 chromosomes  44 are autosomes  22 pairs of homologous chromosomes  2 are sex chromosomes: X and Y  Females have two X.
Human Heredity Who and What and Why of Humans? New Flash…….. It has been discovered that having a glowing “red nose” is a recessive sex-linked trait.
ABO Blood Groups and Genetic Disorders
HUMAN GENETICS. Objectives 2. Discuss the relationships among chromosomes, genes, and DNA. 2.8 Examine incomplete dominance, alleles, sex determination,
Human Heredity Humans have 46 chromosomes –22 pairs of Autosomes (body cells) –1 pair of Sex chromosomes (XX or XY) Chromosomes can be cut up and arranged.
Human Genetic Disorders Biology. Mutations Sometimes genes are damaged or copied incorrectly. A change in a gene is called a mutation. Mutations are a.
14.2 Human Genetic Disorders
Human Genetics.
Mistakes Happen DNA is the genetic material of living organisms and is located in the chromosomes of each cell. What happens if a mistake is made when.
End Show Slide 1 of 43 Copyright Pearson Prentice Hall 14–1 Human Heredity 14-1 Human Heredity.
Ch 6, Sec 2 Human genetic disorders
Pedigree definition  Pedigree: a family history that shows how a trait is inherited over several generations  Pedigrees are usually used when parents.
COMPLEX INHERITANCE OF HUMAN TRAITS
13-2 Human Genetic Disorders Ms. De Los Rios 7 th Grade Human Genetics and Genetic Technology- Course 2.
Chapter 3 Heredity Review. Question 1 Humans have how many chromosomes in body cell?
Human Genetic Disorders
Today’s Agenda…  Bellringer: Life Science Multiple Choice Questions  Discuss homework from last night  Notes on Human Genetic Disorders.
The Human Genome Chapter 14.
Chapter 14 Human Genetics Human Chromosomes Genome = the full set of genetic information that an organism carries in its DNA Karyotype = the complete.
GENETIC MUTATIONS What is this picture depicting?.
February 10, 2015 Warm-up: Normal human red blood cells are a round, closed donut shape and are responsible for transporting oxygen throughout the body.
Lesson Overview 14.2 Human Genetic Disorders. THINK ABOUT IT Have you ever heard the expression “It runs in the family”? Relatives or friends might have.
Warm Up Things that are changed in an experiment are called the ___________________.
Inherited Genetic Disorders & Pedigrees
Human Genetics.
Human Genetic Disorders
Genetic disorders and pedigrees
Warmup 5/12/16: Turn in U8 Qualifier and signed progress report to the folder at your station Next, complete the Pedigree Review Worksheet.
Tracing the Inheritance of the Human Y Chromosome
ABO Blood Groups and Genetic Disorders
Non-Mendelian: Sex- Linked Traits
Biology Ch. 14 Human Heredity.
14.2 Human Genetic Disorders
Non-Mendelian: Sex- Linked Traits
A family history of a genetic condition or trait
Karyotypes.
Human Heredity.
How can you study human heredity?
Section 7-1 “Human genetics”
Human Genetics.
A family history of a genetic condition or trait
NEW SEATING CHART ON STATION #7
Chapter 14 – The Human Genome Human Chromosome 3 Suzanna Macedo 2010
INHERITED GENETIC DISORDERS
Chromosomes, Autosomes and Sex chromosomes
Mrs. Jacobs Unit 6: Genetic Abnormalities IN 149
Genetics of Parenthood Quiz
GENETIC DISORDERS.
Genetic Disorders.
Genetic Disorders.
Patterns of inheritance
Example of Trait = Albinism
Mutations Chapter 9.
Human Genetic Disorders
Inheritance of Genetic Traits
HEREDITY AND INHERITED DISORDERS
Mutations: The Basis of Genetic Change
Key Concepts What are two major causes of genetic disorders in humans?
Presentation transcript:

These disorders cannot be cured but are not contagious Genetic Disorders May result from a change in DNA…a single base pair may be substituted, added or left out. Changes in chromosome number can also lead to genetic problems. These disorders cannot be cured but are not contagious

Humans have 23 pairs of autosomal chromosomes and 2 sex chromosomes Normal Karyotype http://homepages.uel.ac.uk/V.K.Sieber/solidktp.jpg Humans have 23 pairs of autosomal chromosomes and 2 sex chromosomes XX produces a female while XY produces a male... the father always determines the sex of the child since the mother can only contribute an X chromosome

Mutations occur all the time in every cell in the body Mutations occur all the time in every cell in the body. Each cell, however, has the remarkable ability to recognize mistakes and fix them before it passes them along to its descendants. But a cell's DNA repair mechanisms can fail, or be overwhelmed, or become less efficient with age. Over time, mistakes can accumulate. tericooper.net/session4/Genetic_Disorders.ppt 

Autosomal recessive disorders Cystic Fibrosis and Sickle Cell Anemia are two examples tericooper.net/session4/Genetic_Disorders.ppt 

Cystic Fibrosis - Cystic fibrosis is a chronic disease in which Cause: deletion of only 3 bases on chromosome 7 http://library.thinkquest.org/06aug/00440/images/comparelungsweb_2.jpg Cystic fibrosis is a chronic disease in which the glands produce excessively sticky mucus that can clog the bronchial tubes in the lungs, making it difficult to breathe.

Organs affected by CF... http://holzerclinic.kramesonline.com/HealthSheets/105698.img

For autosomal recessive disorders, both Parents must pass on the mutation for a child to be affected http://cockaynesyndrome.yolasite.com/resources/basicpunnetsquare.jpg http://cockaynesyndrome.yolasite.com/resources/basicpunnetsquare.jpg

Sickle-cell anemia Also called sickle-cell disease, is a hereditary disorder in which abnormal hemoglobin * within the red blood cells (RBCs) causes the cells to take on abnormal sickle (crescent shapes. This may cause inflammation, pain, tissue damage, and anemia *decreases the ability of the hemoglobin to transport oxygen *sickled cells tend to bunch up and clog the blood vessels, and they tend to break apart more easily than normal RBCs. Photo by: Sebastian Kaulitz

Normal Red Blood Cells and Sickle Cells http://www.nhlbi.nih.gov/health/health-topics/topics/sca/ http://www.youtube.com/watch?v=iKQmQHh4E2w&feature=player_embedded#at=229

Sickle Cell and Malaria Malaria epidemics in regions where sickle cell anemia was common caused a large number of deaths. However, people with sickle cell anemia or carriers of the disease always survived malaria even if they became infected. The malaria parasite was paralysed or destroyed by sickled erythrocyte cells. Sickled red blood cells live for only ten to 20 days, which is much lower than the 120 day lifespan of normal, healthy red blood cells. This may affect the life cycle of the malaria parasite in the body, stopping it from replicating. As the rate at which the infection spreads in the body is drastically slowed, it may give the immune system time to attack and subdue malaria completely. Sickle_cell_distribution.jpg Malaria_distribution.jpg http://suite101.com/article/the-connection-between-sickle-cell-anemia-and-malaria-a255511

Change in chromosome number Down’s Syndrome Caused by non-disjunction of the 21st chromosome. Where meiosis does not occur correctly to separate the chromosomes. This means that the individual has a trisomy (3 – 2lst chromosomes). tericooper.net/session4/Genetic_Disorders.ppt 

Down’s Syndrome or Trisomy 21 http://2.bp.blogspot.com/_7DDIcb57f14/S3Ms06a1-HI/AAAAAAAACOQ/Gp-eNTa1-AY/s400/downs.gif

Symptoms of Down Syndrome Upward slant to eyes. Small ears that fold over at the top. Small, flattened nose. Small mouth, making tongue appear large. Short neck. Small hands with short fingers. Low muscle tone. Single deep crease across center of palm. Looseness of joints. Small skin folds at the inner corners of the eyes. Excessive space between first and second toe. In addition, down syndrome always involves some degree of mental retardation, from mild to severe. In most cases, the mental retardation is mild to moderate. tericooper.net/session4/Genetic_Disorders.ppt 

Sex linked disorders *are carried on the X or Y chromosomes *most often passed from mothers to sons on an affected X chromosome Hemophilia is the oldest known hereditary bleeding disorder. Caused by a recessive gene on the X chromosome. A son who inherits a defective X chromosome from his mother does not have a healthy X chromosome to rely on the way daughters (XX) do. tericooper.net/session4/Genetic_Disorders.ppt 

European Royalty and Hemophilia History's most famous carrier of the gene for hemophilia was Victoria (1819-1901), Queen of England and grandmother to most of the royalty in Europe. In 1853, Queen Victoria gave birth to her eighth child, Leopold, Duke of Albany, who had hemophilia and died at the age of 31 from internal bleeding after a fall. Two of Queen Victoria's four daughters, Alice (b. 1843) and Beatrice (b. 1857), also carried the gene for hemophilia and subsequently transmitted the disease to three of Victoria's grandsons and to six of her great-grandsons. Alice's daughter Alexandra also was a carrier of hemophilia, and she transmitted the disease to her son Alexis (b. 1904), whose father was Czar Nicholas 11 (1868—1918) of Russia. Alexis is perhaps the most famous of the European royals with hemophilia. Alexis was the heir to his father's throne and his medical condition caused much anxiety in the royal household. Historians are still discussing the role Alexis's condition played in the Russian revolution of 1918.tericooper.net/session4/Genetic_Disorders.ppt 

Czar Nicholas II of Russia and his family, photographed c Czar Nicholas II of Russia and his family, photographed c. 1916, showing his wife Alexandra(who was a carrier of hemophilia), his four daughters, and (in the foreground) his son Alexis, perhaps the most famous European royal with hemophilia. http://www.humanillnesses.com/original/Gas-Hep/Hemophilia.html#b

The very tragic disease… hairy ears Y-linked trait, which are rare Only 1 cure known…. The very tragic disease… hairy ears tericooper.net/session4/Genetic_Disorders.ppt 

tericooper.net/session4/Genetic_Disorders.ppt