Inherited Human Disorders A Hemophilia 1 Lack of
- Slides: 26
Inherited Human Disorders
A) Hemophilia 1) Lack of a blood clotting protein
2) recessive, sex linked 2) recessive, sex-linked disorder
Hemophilia, cont. Famous pedigree of Queen Victoria’s family
B) Albinism 1) Limited pigment in the eyes, skin and hair
Albinism, cont. 2) Results in: white hair, pale skin, pink pupils 3) Problems with vision and sun exposure
4) Albinism- recessive, autosomal trait
If both parents are carriers:
Huntington’s video C. Huntington Disease - Symptoms 1) Effects: -emotions -cognition -movement 2) Awkward gait, clumsiness. depression memory loss
Huntington Disease - Cause 3) Faulty proteins cause brain cells to die 4) Dominant, autosomal 5) Onset of symptoms later in life (30 -45 y. o. ) 6) Genetic test available 7) Currently no cure
Huntington Disease Pedigree Autosomal, dominant
D) Tay Sachs 1) Relentless deterioration of mental and physical abilities 2) After normal development, child becomes blind, deaf, unable to swallow and paralyzed.
Tay Sachs - Pedigree -autosomal -recessive -more common in people of Eastern European Jewish descent TAY SACHS clip
E) Cystic Fibrosis 1) Thick mucus blocks digestion and respiration
Cystic Fibrosis, cont
Cystic Fibrosis, cont 2) autosomal, recessive trait
CF video Cystic Fibrosis, cont 3) Treatment: physical therapy, medication, special diet, and replacement digestive enzymes
4) Life expectancy is improving
F) Achondroplasia 1) Characterized by small body size and short limbs = dwarfism
Achondroplasia, cont. 2) Symptoms: unusually large head, unusually prominent abdomen and buttocks, short limbs
Achondroplasia, cont. 3) Genetics: a) autosomal dominant b) spontaneous mutation
G) Marfan Syndrome 1) Tall, thin bodies that are disproportionate – arm span is often greater than height.
Marfan Syndrome, cont. 2) Loose joints and fingers
Marfan Syndrome, cont. 3) Breast bone sticks in or protrudes out 4) Enlarged, weakened aorta
Marfan Syndrome, cont. 5) Autosomal dominant - no carriers
- What is christmas disease
- Hemophilia karyotype picture
- Hemophilia vs von willebrand
- Hemophilia
- Sickle cell karyotype
- 5852/25 as a mixed number
- Hemophilia punnett square worksheet
- Hemophilia transmission
- 14-2 human chromosomes
- Xhxh and xhy
- What is hemophilia
- Pathophysiology of hemophilia ppt
- Hemophilia karyotype picture
- Primary hemostasis
- Queen victoria family tree hemophilia
- Hemophilia
- Hemophilia federation of america
- Hemophilia care plan for school
- "world federation of hemophilia"
- Hemophilia punnet square
- John conrad otto
- Hemophilia inheritance chart
- Communicable and noncommunicable diseases venn diagram
- Hemophilia
- Hemophilia
- Hemophilia and tattoos
- Punnett square hemophilia inheritance