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:

C. Huntington Disease - Symptoms Huntington’s video C. Huntington Disease - Symptoms 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 Relentless deterioration of mental and physical abilities After normal development, child becomes blind, deaf, unable to swallow and paralyzed.

-more common in people of Eastern European Jewish descent 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

Treatment: physical therapy, medication, CF video Cystic Fibrosis, cont Treatment: physical therapy, medication, special diet, and replacement digestive enzymes

4) Life expectancy is improving

F) Achondroplasia 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