7-3 genetic disorders vocabulary and graphic organizers
TRANSCRIPT
7-3 Genetic Disorders
Vocabulary
and
Graphic Organizers
Mutation
A change in a gene. In some cases, genes are sometimes damaged or copied incorrectly.
Most mutations are recessive and are not
expressed in the heterozygous condition
The mutation will only be expressed if both parents pass on the
recessive gene.
Harmful mutations can cause genetic
disorders
definitiondefinition
Genetic disorder
Harmful effects that are produced by
mutations
In most cases genetic disorders are recessive
Sickle cell anemia
Cystic fibrosis
definitiondefinition
Hemophilia
Down syndrome
Cystic fibrosis
Recessive genetic disorder caused by a mutation in a gene
that codes for a transport protein
In the homozygous condition – causes cells in respiratory
and digestive systems to produce misshapen transport
proteins
Gene Therapy
Mucus forms in the lung and pancreas
definitiondefinition Researchers have
located the gene that causes Cystic fibrosis.
Patients have trouble breathing and digesting
their food
Gene Therapy
Healthy copy of the mutated gene is
transferred into the lungs of cystic fibrosis
patients
The possibility is still in the stages of research
definitiondefinition
This could be a potential cure in the
near future
Sickle cell anemiaRecessive gene
disorder caused by mutation in the gene
that codes for hemoglobin
Hemoglobin is the protein in red blood cells that moves
oxygen throughout the body
definitiondefinition
Causes low blood iron, fatigue,
headaches, muscle cramps
Heterozygous condition is resistant
to Malaria
Hemophilia
Recessive genetic disorder caused by a
mutation on the X chromosome
Causes the body to build a defective form of a protein
needed to clot blood
definitiondefinition
Small cuts are difficult to heal and
internal bleeding could be fatal
Carried on the X chromosome. Women are carriers, while men
will develop the disorder
Sex-linked inheritance
Sex-linked inheritance
Traits that are determined by genes
located on the X chromosome
definitiondefinition
Down syndrome
Arises from 3 copies of chromosome 21
definitiondefinition
Physical characteristics:Extra folds in upper eyelids, broad and
flattened nose, thick tongue, and mental
retardation
Occurs in about 1 of every 1000 births
Genetic Counseling and Gene Therapy
Carrier
Person who is heterozygous for recessive mutation. They are
known as a carrier of the gene.
definitiondefinition
If one member of the family has a genetic disorder, it is possible
that other members of the family have the recessive gene.
Genetic Counseling
pedigree
A pedigree is a record that shows inheritance patterns over
several generations
definitiondefinition
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
Genetic Counseling
Kids – to have, or not to have