BIOCHEM NBME EXAM GRADED A+
Hypercholesterolemia
Autosomal dominant - mutation of the LDL receptor
Marfan Syndrome
autosomal dominant; mutation in the fibrillin that holds in the elastin; tall, weak heart
Huntington's disease
Autosomal dominant; CAG repeats in the huntingtin gene; huntingtin is involved in
kinesin, dynein trafficing; characterized by uncontrollable body movements and
degeneration of the nervous system; usually fatal 10 to 20 years after the onset of
symptoms.
Achondroplasia (dwarfism)
Autosomal dominant; mutation in a fibroblast growth factor receptor; stunted bone
growth
Neurofibromatosis Type 1
Autosomal dominant; mutations in NF1 gene, which is a GTPase activating protein;
usually formed in childhood; causes non-cancerous tumors in the brain, spinal cord, and
nerves
Polycystic Kidney Disease
autosomal dominant; mutation in a number of membrane proteins; cysts forms in the
kidneys causing them to enlarge and become nonfunctional
Tuberous sclerosis
autosomal dominant disease characterized by hamartomas and other neoplasms;
SEGAs resemble "candle drippings"; due to mutation in gene for hamartin or tuberin
(TSC1 or TSC2)
Albanism
Autosomal recessive; loss of melanocyte tyrosinase
Cystic Fibrosis
autosomal recessive; mutation in the CTFR; disrupt function of chloride channels and
movement of water into secretions
Phenylketonuria (PKU)
Autosomal recessive; mutation in phenylalanine hydroxylase; tyrosine isn't formed from
phenylalanine, and phenylalanine builds up, causing brain damage, intellectual
disorders, behavioral symptoms, or seizures
Hemochromatosis
Autosomal recessive; iron storage disease (too much iron) caused by a variety of
mutations in iron absorption and transport; excess iron can poison organs, causing liver
cirrhosis, irregular heartbeat, and cancer
Sickle Cell Disease
Autosomal recessive; E6V change in the beta chain of hemoglobin that causes a
hydrophobic pocket that makes the hemoglobin stuck in the deoxygenated form after
unbinding O2
Hemophilia A
X-linked; mutation in Factor VIII that causes excess bleeding
Duchenne Muscular Dystrophy
Hypercholesterolemia
Autosomal dominant - mutation of the LDL receptor
Marfan Syndrome
autosomal dominant; mutation in the fibrillin that holds in the elastin; tall, weak heart
Huntington's disease
Autosomal dominant; CAG repeats in the huntingtin gene; huntingtin is involved in
kinesin, dynein trafficing; characterized by uncontrollable body movements and
degeneration of the nervous system; usually fatal 10 to 20 years after the onset of
symptoms.
Achondroplasia (dwarfism)
Autosomal dominant; mutation in a fibroblast growth factor receptor; stunted bone
growth
Neurofibromatosis Type 1
Autosomal dominant; mutations in NF1 gene, which is a GTPase activating protein;
usually formed in childhood; causes non-cancerous tumors in the brain, spinal cord, and
nerves
Polycystic Kidney Disease
autosomal dominant; mutation in a number of membrane proteins; cysts forms in the
kidneys causing them to enlarge and become nonfunctional
Tuberous sclerosis
autosomal dominant disease characterized by hamartomas and other neoplasms;
SEGAs resemble "candle drippings"; due to mutation in gene for hamartin or tuberin
(TSC1 or TSC2)
Albanism
Autosomal recessive; loss of melanocyte tyrosinase
Cystic Fibrosis
autosomal recessive; mutation in the CTFR; disrupt function of chloride channels and
movement of water into secretions
Phenylketonuria (PKU)
Autosomal recessive; mutation in phenylalanine hydroxylase; tyrosine isn't formed from
phenylalanine, and phenylalanine builds up, causing brain damage, intellectual
disorders, behavioral symptoms, or seizures
Hemochromatosis
Autosomal recessive; iron storage disease (too much iron) caused by a variety of
mutations in iron absorption and transport; excess iron can poison organs, causing liver
cirrhosis, irregular heartbeat, and cancer
Sickle Cell Disease
Autosomal recessive; E6V change in the beta chain of hemoglobin that causes a
hydrophobic pocket that makes the hemoglobin stuck in the deoxygenated form after
unbinding O2
Hemophilia A
X-linked; mutation in Factor VIII that causes excess bleeding
Duchenne Muscular Dystrophy
