Biochemistry Flashcards
Heterochromatin vs. Euchromatin, which is expressed?
HeteroChromatin is Highly Condensed
Euchromatin is Expressed
pg. 32
Histone/DNA modifications that change gene expression
(there are 3)
CpG Methylation Makes DNA Mute
Histone Methylation Mostly Makes DNA Mute
Histone Acetylation makes DNA Active
pg 32
Lesch Nyhan Syndrome
Hint: enzyme absent is mnemonic for clinical presentation
Enzyme absent: HGPRT (funtions in purine salvage pathway)
Hyperuricemia
Gout
Pissed off (aggression, self-mutilation)
Retardation (intellectual disability)
DysTonia
pg 34
Drugs that act on microtubules
Hint: mnemoic is Microtubules Get Constructed Very Poorly
Mebendazole (antihelminthic)
Griseofulvin (antifungal)
Colchicine (antigout)
Vincristine/Vinblastine (anticancer)
Paclitaxel (anticancer)
pg 44
Types of Collagen
Hint: mnemonic is Be (So Totally) Cool, Read Books
Type I: Bone (also, B”one” has the word one in it)
Skin
Tendon
Type II: Cartilage (also, think carTWOlage)
Type III: Reticulin (skin, blood vessels, uterus). Affected in Ehler Danlos, so think ThreE D
Type IV: Basement Membrane (think type four under the floor)
pg. 46
Osteogenesis Imperfecta clinical presentation
Hint: mnemonic is Patients can’t BITE
Genetic bone disorder, decreased production of type I collagen
Presentation:
Bones = multiple fractures
I (eye) = blue sclerae
Teeth = dental imperfections
Ear = hearing loss
****May be confused with child abuse*****
pg 47
X-linked recessive disorders
Warning: this is a gnarly ass mnemonic
Hint: mnemonic is Oblivious Female Will Often Give Her Boys Her x-Linked Disorders
Ornithine Transcarbamylase Deficiency
Fabry Disease
Wiskott-Aldrich syndrome
Ocular albinism
G6PD deficiency
Hunter syndrome
Bruton agammaglobulinemia
Hemophilia A and B
Lesch-Nyhan syndrome
Duchenne (and Becker) muscular dystrophy
pg 56
Duchenne Muscular Dystrophy is due to what type of mutation?
Duchenne = deleted Dystrophin
pg 57
Myotonic type I Muscular Dystrophy presents with what clinical presentation?
Hint: The trinucelotid repeat responsible is CTG, and that is the mnemonic
Cataracts
Toupee (Early balding in men)
Gonadal Atrophy
pg 57
Fragile X syndrome clinical presentation
Hint: trinucleotide repeat is CGG, is also the mnemonic
Chin (protruding)
Giant Gonads
pg 58
Trinucleotide repeat expansion diseases
Hint: mnemonic is Try hunting for my fragile cage free eggs
Try (trinucleodide)
hunting (Huntington)
for my (myotonic dystrophy)
fragile (fragile X)
cage free eggs (Friedrich ataxia)
pg 58
Trinucleotide repeat for Huntington disease
CAG
Caudate has
less ACh and
GABA
pg 58
Trinucleotide repeat for Friedreich ataxia
GAA
Ataxic GAAit
pg 58
Down Syndrome is a trisomy of what chromosome?
21 (Drinking age is 21)
Associated with: duodenal atresia, Hirschsprung disease, congenital heart disease (eg AV septal defect), Brushfield spots, early-onset Alzheimer disease, increased risk for ALL and AML
pg 59
Edwards Syndrome is a trisomy of what chromosome?
Also Clinical Findings
Hint: mnemonic for clinical findings is PRINCE Edward
18 (Election aege=18)
Clinical Findings:
Prominent Occiput
Rocker Bottom Feet
Intellectual disability
Nondisjunction
low-set Ears
pg 59
Patau syndrome is a trisomy of what chromosome? Also what are the clinical findings?
Hint: clinical findings are all associated with the letter P
Trisomy 13 (Puberty=13)
Clinical Findings: cleft liP/Palate, holoProsencephaly, Polydactyly, cutis aPlasia, congenital heart disease
pg 59