Pedigrees Flashcards
Autosomal inheritance
Traits that are inherited from chromosomes not including the sex chromosome
Autosomal dominant
When the disorder is expressed as a dominant allele
* it only takes one dominant allele to be expressed (ex Huntington diseases)
Autosomal recessive
When the disorder is expressed through recessive alleles
* it takes 2 recessive alleles for the disorder to be expressed (cystic fibrosis)
* this means both parents must have disorder gene— carriers
Pedigrees
A pedigree is a family tree which shows the family’s history regrading genetics
* you can tell if a family has a sex linked or autosomal disorder
* if the autosomal is dominant or recessive
Whether a family has an autosomal or sex-linked disease or disorder
Sex linked: one gender is expressing the disorder more the the other.
*Located on the X and why chromosome
Autosomal disorder: is both genders are expressing the disorder evenly
* Located on the 22 chromosomes and not the sex chromosome
Colour Blindness:
• Deficiency to perceive colors
• Problem with color-sensing
pigments in certain nerve cells
of the eye
• About 1 in 10 men have some
form of color blindness.
• Sex-linked disorder
Sickle Cell Anemia
• Disorder where abnormal hemoglobin is produced and warps red blood cells
• Sickle cells deliver less oxygen to body’s
tissues and can get stuck in small blood
vessels
• Recessive trait (autosomal) that tends to be seen in people of African or Mediterranean descent (links to malaria and immunit
Cystic Fibrosis:
Recessive, autosomal disease
• Life threatening, causes thick
mucus to build up in various
areas of the body (lungs,
digestive tract, etc).
• Tends to run in Caucasians, of
Northern/Central European
descent (1 in 29 Americans carry
the allele)
• Average lifespan in US for people
with CF is 37, death usually
caused by lung complications
Hemophilia
• Bleeding disorder, where it
takes a long time for blood
to clot (body lacks
proteins involved in
clotting)
• Sex-linked (carried on the
X chromosome)
• Treatment involves
injection with missing
clotting prot
Huntington’s Disease:
• Autosomal, dominant
• Deterioration of brain tissue,
usually begins between age 30
and 40.
• No cure, but have medications
to cope with symptoms
• People usually die 15-20 years
after onset of degeneration