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Human Genetic Disorders

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Presentation on theme: "Human Genetic Disorders"— Presentation transcript:

1 Human Genetic Disorders

2 What are Genetic Disorders?
Genetic disorder- an abnormal condition that a person inherits through genes or chromosomes Genetic disorders are caused by mutations The mutation may occur when sex cells form or may be passed down from parent to offspring

3 Cystic Fibrosis Body produces abnormally thick mucus in the lungs and digestive system Symptoms: Difficulty breathing Bacteria in lungs can cause infections Digestive problems Mutation is caused by a recessive allele Most common in people of northern European descent Currently no cure Treatment: drugs to prevent infection physical therapy

4 Sickle-Cell Disease Red blood cells are sickle shaped, resulting from abnormal production of the protein hemoglobin Hemoglobin is responsible for carrying oxygen in the blood Symptoms: Lack of oxygen in the blood Pain and weakness Most common in people of African descent Currently no cure Treatment: Drugs to relieve symptoms and to prevent blockages in veins

5 Hemophilia A genetic disorder in which a person’s blood clots very slowly or not at all due to a missing protein Potential to bleed to death from small cuts or minor bumps and bruises Caused by a recessive allele on the X chromosome Occurs more frequently in males Treatment: Regular doses of missing protein Avoid contact sports

6 Huntington’s Disease A genetic disease that causes the gradual breakdown of cells in the brain Caused by a dominant allele Is a fatal disease with no cure Symptoms appear around age 30

7 Down Syndrome A genetic disorder caused by an extra chromosome 21
The extra chromosome is a result of an error during meiosis Symptoms: Distinctive physical appearance Some degree of mental retardation Heart defects

8 Diagnosing Genetic Disorders
Scientists use tools such as Amniocentesis Doctor uses a long needle to remove fluid surrounding the baby Fluid contains cells that are analyzed in a karyotype Karyotypes A picture of all the chromosomes in a cell Doctors arrange chromosomes in pairs Look for correct number and shape of chromosomes Can be used to determine sex of baby

9 Genetic Counseling People may have genetic counseling if they have a history of genetic disorders in their families Genetic counselors use karyotypes, pedigree charts, and Punnett squares to determine a couple’s chances of having a child with certain genetic disorders

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