Human Genetics

1
Human Genetics

• Disorders caused by mutations or chromosomal
  abnormalities

2
(No Transcript)
3
A yoga that makes you sweat By Dennis Watkins
The sweating bodies and red, tired faces could
have belonged to a platoon of military trainees,
but these students were actually practicing yoga.
This particular version, called Bikram yoga, is a
90-minute routine of poses and breathing
exercises, all performed in a 105-degree room.
4
(No Transcript)
5
Why do we sweat?

• It controls our body temperature.

What if we didnt sweat?
6
Anhidrotic Ectodermal Dysplasia

• Group of disorders characterized by the
  absence of sweat glands, abnormal teeth, and
  hypotrichosis (less hair than normal)

Doesnt usually affect life span
Allele shows incomplete dominance, need two to
have full disorder
7
(No Transcript)
8
Cystic Fibrosis

• Normal cells in the lungs create some mucus but
  it is regularly cleared away.

9
Cystic Fibrosis, cont.

• Constant mucus makes people with CF get lung
  infections a lot. It scars their lungs.

10
Cystic Fibrosis, cont.
Patients need treatment to clear the mucus and
help them breathe.
11
Cystic Fibrosis, cont.
CF is a recessive gene so you need two copies of
the allele to show the condition.
12
Cystic Fibrosis, cont.
CF usually leads to early death. Average life
expectancy is 31 years.
13
Huntingtons Disease
Progressive deterioration of the nerve cells in
certain parts of the brain
14
Huntingtons, cont.
Symptoms Uncontrolled movements Loss of
intellectual faculties Emotional disturbance
15
Huntingtons, cont.

• Early symptoms mood swings, depression,
  irritability or trouble driving, learning new
  things, remembering a fact, or making a decision
• Concentration on intellectual tasks becomes
  increasingly difficult and the patient may have
  difficulty feeding himself or herself and
  swallowing.

16
Huntingtons, cont.
Treatment No way to stop or slow the
progress Drugs to help control emotional and
movement problems All have side effects
17
50 chance of getting it if a parent has it
18
Huntingtons, cont.
19
Down Syndrome
Karyotype of a person with Down syndrome
There are two of each chromosome except 21
20
Down Syndrome
When the cells go through division, one
chromosome gets mixed up. You end up with extras
or not enough.
21
Down, cont.
Causes physical differencesflat nose, eyefolds,
poor muscle tone, short neck, heart defects
22
Down syndrome, cont.
1 in 800 people May shorten life, mostly because
of health problems (heart) Most have mild to
moderate mental retardationnot all
23
Down syndrome, cont.
Known for positive, enthusiastic
attitude. Employers trust, very reliable
Want to be seen for what they can do
http//www.ndss.org/