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Human genetic disorders

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Chapter 4, Section 2
Human Genetic Disorders
Monday, December 14, 2009
Objectives
Describe the causes and symptoms of
five human genetic disorders.
Explain how genetic disorders are
diagnosed.
Describe the role of a genetic counselor.
Vocabulary Words
1. Genetic disorder
2. Amniocentesis
3. Karyotype
Genetic Disorder
 An abnormal condition that a person inherits
through genes or chromosomes.
 Caused by mutations, or changes in a
person’s DNA.
 In some cases, this occurs during meiosis.
 In other cases, it was present in the parent’s cells
that are passed on to the offspring.
Cystic Fibrosis
 Body produces abnormally thick mucus in the
lungs and intestines.
 Breathing is difficult.
 Bacteria grow in the mucus causing infections.
 Digestion is difficult.
 Mutation for CF is carried on a recessive
allele.
 Most common among individuals of Northern
European descent.
 No cure -- many on drug therapy.
Sickle-Cell Disease
 Genetic disorder affecting the blood.
 Affects the production of an important protein
called hemoglobin.
 This protein carries oxygen.
 People with Sickle-Cell produce an abnormal form
of hemoglobin.
 Sickle-shaped red blood cells cannot carry as
much oxygen as normal-shaped cells.
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6200000.ppt

  • 1. Chapter 4, Section 2 Human Genetic Disorders Monday, December 14, 2009
  • 2. Objectives Describe the causes and symptoms of five human genetic disorders. Explain how genetic disorders are diagnosed. Describe the role of a genetic counselor.
  • 3. Vocabulary Words 1. Genetic disorder 2. Amniocentesis 3. Karyotype
  • 4. Genetic Disorder  An abnormal condition that a person inherits through genes or chromosomes.  Caused by mutations, or changes in a person’s DNA.  In some cases, this occurs during meiosis.  In other cases, it was present in the parent’s cells that are passed on to the offspring.
  • 5. Cystic Fibrosis  Body produces abnormally thick mucus in the lungs and intestines.  Breathing is difficult.  Bacteria grow in the mucus causing infections.  Digestion is difficult.  Mutation for CF is carried on a recessive allele.  Most common among individuals of Northern European descent.  No cure -- many on drug therapy.
  • 6. Sickle-Cell Disease  Genetic disorder affecting the blood.  Affects the production of an important protein called hemoglobin.  This protein carries oxygen.  People with Sickle-Cell produce an abnormal form of hemoglobin.  Sickle-shaped red blood cells cannot carry as much oxygen as normal-shaped cells.
  • 7. Sickle-Cell Disease -- Cont’d  People with Sickle-Cell disease suffer from lack of oxygen in the blood.  Disease occurs most often in people of African ancestry.  They experience pain and weakness.  There is no cure.
  • 8. Hemophilia  A genetic disorder in which a person’s blood clots very slowly or not at all.  The protein for clotting is not produced.  Caused by a recessive allele on the X chromosome. Occurs most often in males.
  • 9. Huntington’s Disease  A genetic disorder that is caused by a dominant allele.  The disease is fatal. Symptoms don’t usually occur until age 30.  Causes gradual breakdown of cells in the brain.
  • 10. Down Syndrome  Result of too many or too few chromosomes.  Most have an extra copy of chromosome 21. Error in meiosis. Chromosomes fail to separate properly.  Degrees of retardation and limitations.  Distinctive physical appearance. Extra chromosome 21
  • 11. Diagnosing Genetic Disorders Doctors use tools such as amniocentesis and karyotype to detect genetic disorders.
  • 12. Amniocentesis  A procedure used before the baby is born.  A very long needle is inserted in the abdomen to remove a small amount of the fluid that surrounds the baby. The fluid contains cells from the baby.
  • 13. Karyotype  It is a picture of all the chromosomes in a cell.  All chromosomes are arranged in pairs.  Reveals whether the developing baby has the correct number of chromosomes. This is a normal karyotype.
  • 14. Homework Workbook 4.2 (due 12/16) No vocabulary quiz!