Mutations
Huntingtons is classified as this mutation:
The phenomenon of subsequent generations getting the disease earlier in life is known as:
anticipation
Patau syndrome is also known as:
What are the functions of T-tubules in muscle
To propagate an action potential/electric signal from neurons
Cystathione synthase deficiency can result in this disorder
Homocysteinuria
If a patient receives two copies of chromosome 15 from their mother, which disorder are they likely to develope
Angelman syndrome
The difference between Duchennes and Beckers muscular dystrophy is in the type of mutation they experience. These mutations, respectively, are:
frameshift, inframe (3 nuc addition or deletion)
XXY, and XYY are known as this, respectively
Klinefelter's syndrome and Jacob's syndrome
Schwann cells are found in this part of the nervous system:
They come in three types, what are they:
PNS
Myelinating, non-myelinating, satellite
Muscles prefer to use this type substrate for energy at rest
fatty acids
Orotic aciduria that has normal bun and glutamine levels result from a defeciency in this enzyme
UMP synthase
A disease showing an example of reduced penetrance
In diseases of multifactoral inheritance, this "barrier" must be crossed before the disease manifests
Liability threshold
Osteon
Layers of the epidermis from deep to superficial
Stratum basale, spinosum, granulosum, lucidum, corneum
The enzyme that converts xanthine to uric acid.
An example of a disease that exhibits locus heterogeneity
EDS
If in the case of a multifactorial inheritance disorder, women are less commonly affected, would a patient be more likely to display the disease if their mother or father was affected?
Mother
Large arthritic joints, dark sclera, blue connective tissue, and urine that oxidizes black could be indicative of this enzyme deficiency
Homogentisate oxidase
The two enzymatic functions of UMP Synthase
OPP Transferase; OMP decarboxylase
Excess nitrogen from skeletal muscle breakdown is taken to the liver via:
alanine
what are some common sxs:
Edwards syndrome
Rocker bottom feet, clenched fist, prominent occiput, death
Prader-willi sydrome arises from a microdeletion in chromosome 15 obtained from which parent?
Father
A thiamine defiency would affect these three enzymes most heavily:
BCAKAD, Pyruvate dehydrogenase, aKG Dehydrogenase, transketolase (bonus)
Defective btk gene is most likely to affect this type of cell:
the name for the disorder is:
B-cells
agammaglobulinemia
Who is going to ACE this exam?
All of us!