1. Vocabulary and Graphic Organizers
7-3 Genetic Disorders
Vocabulary
and
Graphic Organizers

2. Harmful mutations can cause genetic disorders
The mutation will only be expressed if both parents pass on the recessive gene.
A change in a gene. In some cases, genes are sometimes damaged or copied incorrectly.
definition
Mutation
Most mutations are recessive and are not expressed in the heterozygous condition
Harmful mutations can cause genetic disorders

3. Genetic disorder Harmful effects that are produced by mutations
Sickle cell anemia
definition
Hemophilia
Genetic disorder
In most cases genetic disorders are recessive
Down syndrome
Cystic fibrosis

4. Cystic fibrosis Gene Therapy
Recessive genetic disorder caused by a mutation in a gene that codes for a transport protein
definition
Researchers have located the gene that causes Cystic fibrosis.
Cystic fibrosis
Patients have trouble breathing and digesting their food
In the homozygous condition – causes cells in respiratory and digestive systems to produce misshapen transport proteins
Mucus forms in the lung and pancreas

5. Gene Therapy
Healthy copy of the mutated gene is transferred into the lungs of cystic fibrosis patients
definition
This could be a potential cure in the near future
The possibility is still in the stages of research

6. Sickle cell anemia
Recessive gene disorder caused by mutation in the gene that codes for hemoglobin
definition
Heterozygous condition is resistant to Malaria
Hemoglobin is the protein in red blood cells that moves oxygen throughout the body
Causes low blood iron, fatigue, headaches, muscle cramps

8. Sex-linked inheritance
Hemophilia
Recessive genetic disorder caused by a mutation on the
X chromosome
Sex-linked inheritance
definition
Carried on the X chromosome. Women are carriers, while men will develop the disorder
Causes the body to build a defective form of a protein needed to clot blood
Small cuts are difficult to heal and internal bleeding could be fatal

9. Sex-linked inheritance
Traits that are determined by genes located on the X chromosome
definition

10. Down syndrome Arises from 3 copies of chromosome 21 definition
Physical characteristics:
Extra folds in upper eyelids, broad and flattened nose, thick tongue, and mental retardation
Occurs in about 1 of every 1000 births

12. Genetic Counseling and Gene Therapy
If one member of the family has a genetic disorder, it is possible that other members of the family have the recessive gene.
Carrier
Person who is heterozygous for recessive mutation. They are known as a carrier of the gene.
Genetic Counseling
definition

13. Kids – to have, or not to have
A Genetic counselor will look for a pattern in the family history of genetic disorders to try and determine whether the client is at risk of having children with a genetic disorder
pedigree
Genetic Counseling
A pedigree is a record that shows inheritance patterns over several generations
definition