Transcript Warm Up 11-18-14

 Define:
 Genetic
Disorder
 Pedigree
 Karyotype

How does this set of
chromosomes compare
to that of a normal
human?
Meaning…What is the
difference?


A genetic disorder is an abnormal condition
that a person inherits through genes or
chromosomes.
Some genetic disorders are caused by:


Mutations in the DNA of genes
Changes in structure or number of chromosomes
For the notes today, copy everything
in navy blue only!

Cystic Fibrosis
 What is it?
 A genetic disorder where the
body produces excess and
abnormally thick mucus,
making it hard to breathe.
 It is caused by a recessive allele
on one chromosome and the
result of a mutation where
three bases are removed from a
DNA molecule.
http://www.youtube.com/watch?v=74Ga
GT48iNg&edufilter=vH8ntV7keCEZLl5wRMzNg

Sickle Cell Disease

What is it?
 It affects hemoglobin (a protein in
red blood cells that carry oxygen).
 People with Sickle Cell have an
odd red blood cell shape.
 They clog blood vessels and cannot
provide organs with the correct
amount of oxygen for survival.
 The allele for the trait is co
dominant. A person with two
sickle cell alleles will have the
disease, while a person with only
one dominant allele will just be a
http://www.youtube.com/watch?v=kuAOEnfx4jE&e
carrier and have no signs.
dufilter=vH8ntV7keCE-ZLl5wRMzNg

Hemophilia





Genetic Disorder where a persons
blood clots very slowly or not at
all.
People with the disorder do not
produce one of the proteins
needed for normal blood clotting.
The danger is internal bleeding
from small injuries.
Hemophilia is caused by a
recessive allele on the X
chromosome.
Hemophilia is a sex-linked
disorder occurring more in males
than females.

Down Syndrome



A person’s cells have an extra copy
of chromosome 21.
Occurs when chromosomes fail to
separate properly during meiosis.
Humans with Down Syndrome
will have mild mental retardation
and heart defects are common.
http://espn.go.com/video/clip?id=845048
8

One important tool scientists use to track the
pattern of inheritance is a pedigree!


Today doctors use tools such as Karyotypes
(pictures of all the chromosomes in a cell) to
help diagnose genetic disorders (some before a
baby is even born).
People with genetic disorders are helped
through medical care, education, job training,
and other methods.

Create a quick flyer to inform the public about
a genetic disorder we talked about today.
Write a:
description of the disorder
 How someone gets the disorder
 How it affects daily life
 Picture (if you can)
 Add a way to make people aware of nice ways to
treat people with this genetic disorder. (How could
they make their quality of life better?)
