Pedigree (younger) Flashcards
How many alleles are required for the disease to be expressed with autosomal recessive?
2 mutant alleles
True/False: an affected person is usually born to unaffected parents.
True
True/False: Only mother is obligate carrier with autosomal recessive.
False, both parents of the child are obligate carriers
True/False: Male to male transmission can occur with autosomal recessive.
True
True/False: With autosomal recessive it usually involves catalytic proteins.
True
True/False: For x-linked there is male to male transmission of the mutant allele.
False, there is no male-male transmission
Usually only affects males.
______________ is very rare, no high yield diseases.
x-linked dominant inheritance
X-linked always means X-linked __________.
recessive
What are some x-linked conditions?
Duchenne and Becker muscular dystrophy
Lesch-Nyhan (HGPRT deficiency purine recycling deficiency)
Glucose-6-phosphate dehydrogenase deficiency
Hemophilia A and B
What are the only organelles in humans that contain their own DNA?
Mitochondria
If you are talking about mitochondrial inheritance we know that we inherited the disease exclusively from what parent? Why?
Mother
During fertilization, sperm do not pass their mitochondria to the egg cell
What are some facts of mitochondrial inheritance?
Only inherited maternally
Both males and females can be affected
All offspring of an affected female are affected
No offspring of an affected male are affected
What is a disease example with mitochondrial inheritance?
LHON (leber Hereditary Optic Neuropathy)