Human Genetic Disorders

1
Human Genetic Disorders
2
Instructions

• Read the information on each slide and complete a
  chart in your notebooks resembling the one below
  (you should build your chart as you go to ensure
  the right amount of space and number of rows).

Genetic Disorder Symptoms and Populations Cause Treatment


3
Down Syndrome

• Smaller head, decreased muscle tone, flattened
  nose, delayed social and mental development,
  (symptoms will vary)
• Chromosomal,
• trisomy-21
• No treatment

4
Sickle Cell Anemia

• Hemoglobin protein made incorrectly causes
  sickled RBC not enough Oxygen carried in blood
  pain episodes and joint swelling
• Genetic autosomal codominant heterozygote has
  trait and is protected from malaria
• Treat symptoms
• Specific populations affected Those of African
  descent and Hispanics of Caribbean descent. 1 in
  12 African-Americans has trait 1 in 500 births
  has disease

5
http//www.nhlbi.nih.gov/health/health-topics/imag
es/sickle_cell_01.jpg http//www.medindia.net/pati
ents/patientinfo/sickle-cell-anemia-symptoms-and-s
igns.htm
6
Hemophilia

• Blood clotting factor protein is not made, so
  individual will not stop bleeding.
• Genetic Sex-linked recessive
• Males
• Give blood clotting factor through IV.

http//www.ncbi.nlm.nih.gov/pubmedhealth/PMH000156
4/
7
Red-Green Colorblindness

• Cannot distinguish between red and green
• Genetic, sex-linked, recessive
• Males get more often
• No treatment

http//www.ncbi.nlm.nih.gov/pubmedhealth/PMH000386
6/
8
Huntingtons Disease

• Brain cells waste away (degenerate) causing
  behavior and movement changes and dementia in
  30s and 40s (could start younger).
• Genetic, autosomal, dominant
• No specific populations
• None, can only slow down symptoms

9
Cystic Fibrosis

• Unable to move salt across membranes which allow
  a thick, sticky mucus to build up in digestive
  and respiratory tracts causes infections in
  lungs, prevents digestion, and imbalance of salt
  through sweating
• Genetic, autosomal recessive
• No specific populations
• Treatment Chest physical therapy, inhalers, and
  gene therapy

10
http//learn.genetics.utah.edu/content/disorders/w
hataregd/cf/ http//pathologyproject.files.wordpre
ss.com/2011/02/cystic-fibrosis-c-s-airway.jpg
11
Tay-Sachs Disease

• A fatty acid cannot be broken down, so it builds
  up in nervous tissue. Symptoms show at 3-6
  months death occurs between 4-5 years.
• Genetic, autosomal, recessive
• Ashkenazi Jews inherit this more often(1 in 27
  carry the gene)
• No treatment

12
Phenylketonuria

• Cannot break down the amino acid phenylalanine
  leads to lighter hair and skin, severe social and
  mental developmental delays, and mousy odor.
• Genetic, autosomal recessive
• No specific populations
• A diet avoiding phenylalanine from birth will
  prevent symptoms from developing. Foods to avoid
  include milk, eggs, Nutrasweet, and aspartame

13
Albinism

• Body doesnt produce melanin, which results in
  very pale skin, hair, eyes, etc. Higher risk of
  sunburn and light sensitivity.
• Genetic, autosomal recessive.
• No specific populations.
• Treat symptoms by limiting sun exposure, wearing
  sunscreen and sunglasses.

14
Adrenoleukodystrophy

• Disease affecting peroxisomes, organelles that
  break down fatty acids. Fat tissue builds up
  around your brain and spinal cord.
• Genetic, X-linked recessive
• Treatments include dietary therapy, stem cell
  transplants, and gene therapy (somewhat
  effective)
• Featured in the movie Lorenzos Oil

15
Hereditary Deafness

• Hearing loss that is inherited by genetics. Not
  all deafness is genetic.
• Since there are different types of hereditary
  deafness, the inheritance pattern varies.
• Hearing aid and other assistive devices, but no
  cures.

16
Coffin-Lowry Syndrome

• People with Coffin-Lowry syndrome experience
  abnormal growth and development, and severe
  mental retardation. Microcephaly
• Genetic, X-linked
• dominant
• Treat symptoms

17
Achondroplasia

• Common cause of dwarfism.
• Genetic, autosomal dominant
• No treatments, but we
• are researching
• gene therapy.

18
Marfan Syndrome

• A disorder affecting
• connective tissue.
• People with Marfan
• syndrome are unusually
• tall and have long limbs.
• Genetic, autosomal
• dominant.
• Treat symptoms.

19
Rett Syndrome

• Almost exclusively found in females, results in
  mental retardation, seizures and other
  neurological problems.
• Genetic, sex-linked
• No treatment currently, but possible gene therapy.

20
Klinefelter Syndrome

• Disorder where males express feminine
  characteristics and are frequently infertile.
• Chromosomal, XXY (trisomy)
• No cure, but symptoms can be treated with
  testosterone.

21
Turner Syndrome

• Females express male features and often have
  heart problems. They are almost always
  infertile.
• Chromosomal, X (monosomy)
• No cure, but symptoms can be treated with growth
  hormone and estrogen therapy.

22
Klinefelter Turner Syndromes
23
Progeria

• A disease marked by premature aging in children.
• Genetic, autosomal dominant
• No treatments

24
Xeroderma pigmentosum

• Inability to repair damage from UV light. Causes
  skin problems.
• Genetic, autosomal recessive
• Treated by limiting exposure to the sun.