BioChemistry Flashcards
(136 cards)
1
Q
Boot-shaped heart
A
RVH, ToF
2
Q
Continuous machine-like murmur
A
PDA
3
Q
Tendon xanthomas
A
Familial Hypercholesterolnemia
4
Q
Café-au-lait spots
A
Neurofibromatosis 1 and 2 & McCune-Albright Syndrome
5
Q
Tuft of hair on lower back
A
spina bifida occulta
6
Q
Classic triad of tuberous sclerosis?
A
Seizures, angiofibromas, mental retardation
7
Q
The cell type proliferates during lung damage?
A
type II pneumocyte
8
Q
Plummer-Vincent Syndrome is characterized by
A
Fe-deficient anemia, esophageal web, atrophic glossitis
9
Q
Symptoms of Plummer-Vincent Syndrome
A
Anemia + Dysphagia + Beefy-red tongue
10
Q
Prader-Willi Syndrome Genetics
A
Imprinting: maternal allele is inactive
Paternal allele has deletion of chromosome 15
11
Q
Angelman Syndrome Genetics
A
Imprinting: paternal allele is inactive
Maternal allele has deletion of chromosome 15
12
Q
Screening Test for HIV
A
Indirect ELISA (known Ag to test for pt Abs)
13
Q
Confirmatory Test for HIV
A
Western blot
14
Q
Carbamoyl Phosphate Synthetase 1 - Pathway
A
Urea Cycle
15
Q
Carbamoyl Phosphate Synthetase 1 - Location
A
Mitochondria
16
Q
Carbamoyl Phosphate Synthetase 1 - N Source
A
Ammonia
17
Q
Carbamoyl Phosphate Synthetase 2 - Pathway
A
Pyrimidine Synthesis (Rate limiting step)
18
Q
Carbamoyl Phosphate Synthetase 2 - Location
A
Cytosol
19
Q
Carbamoyl Phosphate Synthetase 2 - N Source
A
Glutamine
20
Q
Nucleosome core is composed of
A
2 - H2A
2- H2B
2 - H3
2 - H4
21
Q
Nucleosome core is (+) charge d/t
A
arginine & lysine residues
22
Q
Function of Histone H1
A
stabilize nucleosome/DNA (linker histone)
23
Q
Heterochromatin
A
tightly packed
24
Q
Euchromatin
A
loosely packed
25
DNA methylation at CpG islands results in
repressed transcription
26
Histone methylation results in
repressed transcription mainly
27
Histone acetylation results in
active transcription
28
Purines
A, G
29
Pyrimidines
C, U, T
30
Deamination of cytosine results in
uracil
31
Which nucleotide pair has a higher melting temp?
G & C -> 3 hydrogen bonds
| A & T have 2 H bonds
32
Purine synthesis requires which amino acids
Glycine, Aspartate, Glutamine
33
UMP Synthase
Orotic Acid + PRPP ---->UMP
34
CPS-II
CO2 + Glutamine ----> Carbamoyl Phosphate
35
Ribonucleotide Reductase
UDP ----> dUDP
36
Thimidylate Synthase
dUMP ------> dTMP
37
What molecule is necessary for the production of Thymine?
Tetrahydrofolate
38
Dihydrofolate Reductase
Dihydrofolate ----> Tetrahydrofolate
39
Glutamine PRPP Amidotransferase
PRPP ----> IMP
40
IMP Dehydrogenase
IMP -----> GMP
41
Deficient UMP Synthetase
Orotic Aciduria
42
Pyrimidine synthesis requires which amino acids
glutamine, aspartate
43
Orotic Aciduria S/S
Orotic aciduria, megaloblastic anemia, normal ammonia levels
44
Tx for Orotic Aciduria
Supplement w/ Uridine
45
orotic aciduria + HYPERammonemia
Ornithine Transcarbamylase deficiency
46
Most common cause of Megaloblastic anemia?
Vit B12 or folate deficiency
47
Xanthine Oxidase
Xanthine & Hypoxanthine ----> Uric acid
48
What enzyme recycles Guanine or Hypoxanthine --------> GMP or IMP?
HGPRT
49
What disease results from the absence of HGPRT?
Lesch-Nyhan Syndrome
50
Lesch-Nyhan Syndrome S/S
gout, aggressive behavior, low IQ, self-mutilation (lip biting), movement disorder (dystonia)
51
Lesch-Nyhan Syndrome Genetics
X-linked
52
Lesch-Nyhan Syndrome Tx
Allopurinol or Febuxostat
53
Orotic Aciduria Genetics
AR
54
Primosome
DNA Helicase + Primase Complex
55
Nonsense mutation
signals a stop codon (UAA, UAG, UGA)
56
Mismatch Repair
cut daughter strand & remove segment containing mismatched base
57
Nucleotide Excision Repair
Damage that occurs sometime after DNA replication (UV light --> thymidine dimer); excise base, remove damaged segment
58
Hereditary Nonpolyposis Colorectal Cancer - defective
mismatch repair
59
Xeroderma Pigmentosum - defective
nucleotide excision repair
60
Bloom Syndrome - defective
helicase, affecting DNA replication & repair
61
Ataxia Telangiectasia - defective
double-stranded DNA break repair
62
Adenosine Deaminase deficiency
causes Severe Combined Immunodeficiency (SCID)
63
BRCA-1/-2 - defective
double-stranded DNA break repair
64
Crest Scleroderma
anti-centromere Ab
65
Diffuse Scleroderma
anti-scl70 inhibiting topoisomerase
66
lac operon produces what enzyme
b-galactosidase
67
What 2 proteins regulate the lac operon?
CAP & lac repressor protein
68
What 2 conditions allow for activation of the lac operon
excess lactose, absent glucose
69
Hairpin loop
termination site of RNA transcription characterized by GC rich segment followed by uracil rich
70
Termination of RNA transcription in prokaryotes?
rho factor or hairpin loop
71
aminoacyl tRNA synthetase
A.A. + tRNA ----> aminoacyl tRNA (on 3')
72
peptidyltransferase
(23S ribozyme) transfers tRNA from A site to P site
73
IF-2
binds 30S subunit & causes Met-aminoacyl tRNA to bind ----> initiating translation
74
EF-G (prokaryotes) EF-2 (eukaryotes)
translocation for growing a.a. chain
75
Post-translational modifications
trimmed, glycosylation, hydroxylation, disulfide linkages, etc
76
Diptheria toxin & Exotoxin A inhibit
EF-2
77
Genetics Achondroplasia
AD
78
Genetics FAP
AD
79
Genetics Familial Hypercholesterolemia
AD
80
Genetics Osler-Weber-Rendu Syndrome
AD
81
Genetics Hereditary Spherocytosis
AD
82
Genetics Huntington Disease
AD
83
Genetics Marfan Syndrome
AD
84
Genetics MEN
AD
85
Genetics Neurofibromatosis-1/-2
AD
86
Genetics Tuberous Sclerosis
AD
87
Genetics Von-Hippel-Lindau Disease
AD
88
Genetics Leber hereditary optic neuropathy
Mitochondrial Inheritance
89
Leigh Syndrome (subacute sclerosing encephalopathy)
Mitochondrial Inheritance
90
Hardy Weinberg Equation
p + q = 1 p^2 + 2pq + q^2 = 1
91
Anticipation
age of onset or worsening of disease occurs over successive generations (d/t trinucleotide repeats)
92
Incomplete Penetrance
not all mutant genotypes will display phenotype
93
What is an example of pleiotropy?
PKU (1 gene has multiple phenotypic effects)
94
Example of locus heterogeneity?
Marfan (many genes may result in same phenotype)
95
Example of imprinting?
Prader-Willi & Angelman Syndrome
96
Genetics of Ocular Albinism
X-linked Recessive
97
Genetics of Albinism
AR
98
Genetics of Fabry Disease
X-linked Recessive
99
Genetics of Cystic Fibrosis
AR
100
Genetics of Glycogen Storage Disease
AR
101
Genetics of Hemochromatosis
AR
102
Genetics of Wiskott Aldrich
X-linked Recessive
103
Genetics of G6PD deficiency
X-linked Recessive
104
Genetics of Hunter Syndrome
X-linked Recessive
105
Genetics of Bruton Agammaglobulinemia
X-linked Recessive
106
Genetics of Mucopolysaccharidosis
AR
107
Genetics of PKU
AR
108
Genetics of Sickle Cell
AR
109
Genetics of Sphingolipidosis
AR
110
Genetics of Hemophilia A/B
X-linked Recessive
111
Genetics of Thalassemias
AR
112
Genetics of Lesch-Nyhan Syndrome
X-linked Recessive
113
Genetics of Duchenne Muscular Dystrophy
X-linked Recessive
114
Most common cause of Lysosomal Storage Disease?
Gaucher Disease
115
Southern Blot
DNA
116
Northern Blot
RNA
117
Indirect ELISA
Known Ag, pt Ab
118
Ataxia telangiectasia - deficient
non homologous end joining
119
Duchenne Muscular Dystrophy - mutation type?
frameshift
120
Sickle Cell Disease - mutation type?
missense
121
Promoter sequence
TATA & CAAT upstream (RNA pol & TFs bind)
122
RNA pol I
makes rRNA (most abundant)
123
RNA pol II
makes mRNA (largest)
124
RNA pol III
makes tRNA (smallest)
125
alpha-amanitin MOA
poison inhibits RNA pol II ---> hepatotoxicity
126
Modifications hnRNA -----> mRNA
1. 7-methylguanosine cap on 5'
2. Polyadenylation tail 3'
3. Splicing
127
snRNPs
bind to hnRNA to form a spliceosome ---> lariat-shape ---> removal of intron (splicing)
128
anti-SMITH Abs
antibodies to spliceosomal snRNPs are specific for SLE
129
anti-U1 RNP Abs
specific for mixed connective tissue disease
130
Abnormal splicing
abnormal variation to alternative splicing (oncogenesis, b-thalassemia)
131
tRNA 3' Acceptor stem
binds a.a., sequence is CCA
132
T arm of tRNA
(thymine, pseudouridine, cytosine) tRNA-ribosome binding
133
D arm of tRNA
(dihydrouracil) tRNA- aminoacyl tRNA synthetase
134
Degeneracy of the genetic code
3rd wobble position may code for same tRNA/a.a.
135
Post-translational modifications
Trimming of N- or C-terminal pro peptides from zymogen, folding, methylation, phosphorylation, glycosylation, hydroxylation, etc
136
Chaperone protein
facilitates/maintains protein folding (heat-shock protein in yeast prevents denaturing at high temps)
