Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Step 1 > Biochemistry > Flashcards

Biochemistry Flashcards

1
Q

Type I collagen

A

Bone, skin, tendon, dentin, fascia, cornea, late wound repair

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Type II collagen

A

Cartilage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Type III collagen

A

Reticulin, skin, blood vessels, uterus, fetal tissue, granulation tissue

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Type IV collagen

A

Basement membrane, basal lamina, lens

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What reflects collagen synthesis?

A

Gylcine content

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Process of collagen modification

A

hydroxylation, glycosylation, exocytosis, proteolytic processing, cross linking

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

collagen hydroxylation

A

proline, lysine, requires vitamin C

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

what is glycosylated in collagen?

A

pro-a chain hydroxylysine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

problems forming collagen glycosylated triple helix

A

osteogenesis imperfecta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

processing of collagen

A

cleaavage of disulfide rich terminal regions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

collagen process

A

procollagen –> insoluble tropocollagen –> collagen fibrils

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

tropocollagen –> collagen

A

lysine-hydrolysine cross linking

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

problem with collagen cross linking

A

Ehlers-Danlos syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

COLIA1/2

A

Osteogenesis imperfecta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Osteogenesis imperfecta usually due to

A

decreased production of type I collagen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

blue sclerae

A

osteogenesis imperfecta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

inheritance OI

A

AD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

inheritance Ehlers-Danlos

A

AD or AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Vascular type Ehlers-Danlos

A

deficient type III collagen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Menkes disease inheritance

A

XR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Menkes disease

A

Impaired Cu absorption and transport

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

ATP7A

A

Menkes protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

brittle hair, growth retardation, hypotonia

A

Menkes disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

decreased activity of lysyl oxidase

A

Menkes disease due to no CU

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Elastin rich in

A

proline, glycine, ltsine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

fibrillin scaffolding with

A

tropoelastin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Marfan

A

defect in fibrillin in elastin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

PCR needs

A

heat (95C), DNA primers, tRNA, DNA polymerase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Southern blot

A

DNA cleaved, radiolabeled DNA, complementary strand

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Northern blot

A

used RNA sample, for mRNA and therefore gene expression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Western blot

A

Antibody binds relevent protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Southwestern blot

A

Oligonucleotide probe, finds DNA binding proteins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Flow cytometry

A

Assesses immunophenotype of cells in a sample

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

ELISA

A

presence of antigen/antibody using enzyme producing colour change

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Karyotyping uses what stage?

A

Metaphase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

FISH

A

localises gene on chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Cloning needs

A

mRNA, reverse transcriptase, –> cDNA –> plasmid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Cre-lox system

A

inducibly manipulates genes at specific developmental points

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Not all individuals with a mutation show the mutation phenotype

A

Incomplete penetrance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Pleiotropy

A

One gene contributes to multiple phenotypic effects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

e.g. of anticipation

A

Huntingdon’s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Loss of heterozygosity

A

A hit on each allele is needed

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Dominant negative mutation

A

nonfunctional protein which also prevents the normal gene from working

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

e.g. Mosaicism

A

McCune-Albright syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

McCune-Albright syndrome

A

G protein signalling

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Locus heterogeneity

A

mutations at different loci can produce a similar phenotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Allelic heterogeneity

A

different mutations in the same locus produce the same phenotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Heteroplasmy

A

normal and mutated mtDNA, variable expression of mt disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Uniparental disomy types

A

2 chr from one parent, none from the other

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Heterodisomy

A

meiosis I error

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Isodisomy

A

meiosis II error

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

Frequency of X linked recessive in males and females

A 
M = q
F = q^2
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

Imprinting

A

one allele is inactive from methylation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

e.g. of maternal Imprinting

A

Prader-Willi

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

Prader-Willi

A

mom gene silent, dad gene deleted/wrong

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

Angelman syndrome

A

dad gene silent, mom gene deleted/ gone wrong

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia

A

Prader-Willi

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

inappropriate laughter, seizure, ataxia, severe intellectual disability

A

Angelman syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

e.g. X linked dominant

A

Hypophosphatemic rickets, Rett syndrome, fragile X syndrome, Alport syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

Muscle fibres show ragged red fibres

A

Mitochondrial myopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

Achondroplasia

A

fibroblast GF 3 mutation, inhibits chondroblasts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

AD PKD

A

PKD1 gene on chr.16; PKD2 gene on chr.4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

Familial adenomatous polyposis

A

APC genes on chr.5q

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

Familial hypercholesterolaemia

A

defective/absent LDL receptor; corneal arcus, tendon xanthoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

Hereditary hemorrhagic telangiectasia also known as

A

Osler-Weber-Rendu syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

branching skin lesions, epistaxis, skin discolourations, ateriovenous malformations, GI bleeding, henaturia

A

hereditary haemorrhage telangiectasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

ankyrin or spectrin defect

A

Hereditary spherocytosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

Huntingdon chr.

A

4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

Li-Fraumeni syndrome

A

TP53 abnormality

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

Sarcoma, breast cancer, leukaemia, adrenal gland cancer

A

Li-Fraumeni syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

Marfan

A

FBN1 gene mutation chr.15

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

lens subluxation - condition and direction

A

Marfan’s; upward and temporally

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

MEN 2A and 2B

A

RET gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

cafe-au-lait spots, neurofibromas, optic glioma, phaeochromocytoma, Lisch nodules

A

Neurofibromatosis type 1

chr.17

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

bilateral acoustic schwannoma, juvenile cateracts, meningioma, ependymoma

A

neurofibromatosis 2

chr. 22

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
76
Q

numerous benign harmatomas

A

tuberous sclerosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
77
Q

deletion of VHL gene - name and chr.

A

von Hippel-Lindau

chr.3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
78
Q

most common problem in CF

A

phe508 deletion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
79
Q

What does CF cause

A

decreased Cl and H2O secretion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
80
Q

Sweat test for CF value

A

> 60

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
81
Q

newborn screening CF

A

immunoreactive trypsinogen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
82
Q

Fabry disease

A

XLR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
83
Q

Ornithine transcarbamylase deficiency

A

XLR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
84
Q

Ocular albinism

A

XLR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
85
Q

G6PD deficiency

A

XLR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
86
Q

Hunter syndrome

A

XLR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
87
Q

Bruton agammaglobulinaemia

A

XLR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
88
Q

Lesch-Nyhan syndrome

A

XLR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
89
Q

Duchenne and Becker muscular dystrophies

A

XLR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
90
Q

Cause of duchenne muscular dystrophy

A

frameshift, no dystrophin, muscle can’t regenerate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
91
Q

cause of death in duchenne muscular dystrophy

A

commonly dilated cardiomyopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
92
Q

where does weakness begin in duchenne muscluar dystrophy?

A

pelvic girdle

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
93
Q

What is seen with lack of dystrophin

A

raised CK and aldolase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
94
Q

Becker dystrophy

A

insertion into dystrophin gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
95
Q

DMPK gene CTG repeat called, causes

A

myotonic type 1 muscular dystrophy, abnormal myotonin protein kinase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
96
Q

myotonia, muscle wasting, cataracts, testicular atrophy, frontal balding, arrhythmia

A

myotonic type 1 muscular dystrophy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
97
Q

FMR1 gene

A

fragile X syndrome, CGG repeat

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
98
Q

enlarged testes, long face, large jaw, large everted ears, autism, mitral valve prolapse

A

fragile X syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
99
Q

GAA repeat

A

Freidrich ataxia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
100
Q

meiotic nondisjuction

A

Down’s syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
101
Q

nuchl translucency, hypoplastic nasal bone

A

Down’s syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
102
Q

raised free b-hCG

A

Down’s syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
103
Q

raised inhibin A

A

down’s syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
104
Q

decreased a-fetoprotein

A

down’s syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
105
Q

decreased estroil

A

down’s syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
106
Q

rocker bottom feet, small jaw, low set ear, crossed fingers

A

Edward’s 18

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
107
Q

decreased PAPP-A, b-HCG

A

Edward’s, Patau’s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
108
Q

Rocker bottom feet, microcephaly, cleft lip, congenital heart disease, cutis aplasia, microphthalmia

A

Patau 13

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
109
Q

Robertsonian translocation chromasomes

A

13, 14, 15, 21, 22

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
110
Q

deletion of short arm on chr.5

A

cri-du-chat syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
111
Q

microcephaly, intellectual disability, high-pitched crying, epicanthal folds, VSD

A

cri-du-chat

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
112
Q

deletion of long arm of chr.7

A

William’s syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
113
Q

elfin face, intellectual disability, hypercalcemia, verbal stills, friendliness with strangers, CVS issues

A

William’s syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
114
Q

thymic aplasia, cleft palate, cardiac defect, hypocalcaemia

A

22q11 delection syndromes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
115
Q

22q11 deletion syndromes

A

DiGeorge syndrome, Velcardiofacial syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
116
Q

Fat soluble vitamins

A

A, D, E, K

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
117
Q

B12 storage

A

liver 3-4 yrs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
118
Q

B9 storage

A

liver 3-4 months

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
119
Q

dermatitis, glossitis, diarrhea

A

B complex deficiencies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
120
Q

Function of vitamin A

A

differentiation of epithelial cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
121
Q

retinol

A

vitamin A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
122
Q

vitamin A found in

A

liver, leafy veg

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
123
Q

all-trans retinoic acid

A

Acute promyelocytic leukaemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
124
Q

dry scaly skin, night blindness, bitot spots

A

vitamin A deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
125
Q

vitamin A toxicity

A

vertigo, blurred vision, alopecia, dry skin, hepatic toxicity, tetarogenic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
126
Q

B1 name

A

thiamine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
127
Q

B1 cofactors

A

pyruvate dehydrogenase, a-ketoglutarate, transketolase, branched chain ketoacid dehydrogenase

128
Q

B1 Deficiency

A

Beri-beri, Wernicke-Korsakoff syndrome

Impaired glucose breakdown

129
Q

Dry beri beri

A

polyneuritis, symmetrical muscle wasting

130
Q

Wet beri beri

A

high-output cardiac failure

131
Q

If suspecting B1 deficiency don’t give

A

glucose infusion

132
Q

riboflavin

A

B2

133
Q

B2 function

A

redox reactions - FAD and FMN

134
Q

Cheilosis, corneal vascularisation

A

B2 deficiency

135
Q

Niacin

A

B3

136
Q

B3 function

A

NAD, NADP

137
Q

B3 made from

A

tryptophan, B2 + B6

138
Q

lowers VLDL, raises HDL

A

B3

139
Q

glossitis, pellagra

A

B3 defieiency

140
Q

pellagra symptoms

A

diarrhoea, dementia, dermatitis

141
Q

broad collar rash

A

dermatitis from B3 deficiency

142
Q

Hartnup disease

A

defieincy of neutral a.a. transporters in kidney and gut

143
Q

Rx Hartnup disease

A

high protein, nicotinic acid

144
Q

prostaglandin facial flushing Rx

A

aspirin + B3

145
Q

pantothenic acid

A

B5

146
Q

B5 function

A

coenzyme A

147
Q

dermatitis, enteritis, alopecia, adrenal insufficiency

A

B5 deficiency

148
Q

Pyridoxine

A

B6

149
Q

B6 function

A

transamination, decarboxylation, phosphorylation cofactor

150
Q

Pyridoxal phosphate

A

from B6

151
Q

B6 needed for

A

cystathionine, heme, niacin, histamine, neutotransmitters

152
Q

convulsions, hyperirritability, peripheral neuropathy, sideroblastic anaemia

A

B6 deficiency

153
Q

Biotin

A

B7

154
Q

function of B7

A

cofactor for carboxylases

155
Q

excessive ingestion of raw egg whites

A

B7 deficiency

156
Q

antibiotic use

A

B7 deficiency

157
Q

folate

A

B9

158
Q

function of B9

A

synthesis of DNA/RNA

159
Q

absorption of B9

A

jejunum

160
Q

increased homocystine, normal methylmalonic acid

A

b9 deficiency

161
Q

drugs causing B9 deficiency

A

phenytoin, sulfonamides, methotrexate

162
Q

Cobalamin

A

B12

163
Q

cofactor for methionin synthase

A

B12

164
Q

degeneration of dorsal columns, lateral corticospinal tract, spinocerebellar tract - from

A

b12 deficiency

abnormal myelin

165
Q

aids iron absorbtion

A

vitamin C

166
Q

dopamine B-hydroxylase

A

needs vitamin C

167
Q

corkscrew hair

A

scurvy

168
Q

scurvey comes from

A

collagen synthesis defect

169
Q

calcium oxalate nephrolithiasis

A

excess vitamin C

170
Q

ergocalciferol

A

D2

171
Q

cholcalciferol

A

D3

172
Q

storage vitamin D

A

25-OH D3

173
Q

tocopherol/ tocotrienol

A

vitamin E

174
Q

what do you not give with vitamin E?

A

warfarin - enhances anticoag effect

175
Q

looks like B12 deficiency, no megaloblastic anaemia

A

vitamin E deficiency

176
Q

phytomenadione, phylloquinone, phytonadione

A

vitamin K

177
Q

carboxylation glutamic acid residues

A

vitamin K

178
Q

newborn injection of vitamin K

A

intestines are unable to synthesise vitamin K

179
Q

delayed wound healing, hypogonadism, decreased adult hair, dysgeusia, anosmia, acrodermatitis

A

zinc deficiency

180
Q

Kwashikor

A

protein deficiency

181
Q

Marasmus

A

malnutrition –> muscle wasting

182
Q

Fomepizole

A

inhibits alcohol dehydrogenase

antidote for methanol/ ethylene glycol poisoning

183
Q

Inhibits acetaldehyde dehydrogenase

A

disulfiram

184
Q

where does B oxidation occur?

A

mitochondria

185
Q

where does glycolysis occur?

A

cytoplasm

186
Q

which processes occur in both the mitochondria and cytoplasm?

A

heme synthesis
urea cycle
gluconeogenesis

187
Q

difference between kinase and phosphorylase

A

both transfer phosphate groups, kinase requires ATP

188
Q

what is the rate determining enzyme in glycolysis

A

PFK-1

189
Q

what is the rate determining enzyme in gng

A

fructose-1,6-biphosphatase

190
Q

what is the rate determining enzyme in TCA

A

isocitrate dehydrogenase

191
Q

what is the rate determining enzyme in glycogenesis

A

glycogen synthase

192
Q

what is the rate determining enzyme in glycogenolysis

A

glycogen phosphorylase

193
Q

what is the rate determining enzyme in HMP shunt

A

G6PD

194
Q

what is the HMP shunt?

A

pentose phosphate pathway

195
Q

what is the rate determining enzyme in de novo pyrimidine synthesis

A

PRPP aminotransferase

196
Q

what is the rate determining enzyme in the urea cycle

A

carbamoyl phosphate synthetase I

197
Q

what is the rate determining enzyme in fatty acid synthesis

A

Acetly-CoA carboxylase

198
Q

what is the rate determining enzyme in fatty acid oxidation

A

carnitine acyltransferase

199
Q

what is the rate determining enzyme in ketogenesis

A

HMG-CoA synthase

200
Q

what is the rate determining enzyme in cholesterol synthesis

A

HMG-CoA reductase

201
Q

malate aspartate shuttle produces, from

A

32 ATP; liver, heart

202
Q

glycerol-3-phosphate shuttle produces, from

A

30 net ATP; muscle

203
Q

how does arsenic work?

A

glycolysis produces 0 ATP

204
Q

how much ATP is made in anaerobic exercise?

A

2 ATP per glucose

205
Q

electron acceptor in catabolic processes

A

NAD

206
Q

electron acceptor used in anabolic processes

A

NADPH

207
Q

glucokinase

A

Liver, B cells of pancreas, ?kidney

208
Q

hexokinase

A

most tissues except liver, B cells of pancreas

209
Q

MODY diabetes

A

mutation in glucokinase

210
Q

pyruvate dehydrogenase complex deficiency causes a build up of

A

lactate and alanine

211
Q

Rx pyruvate dehydrogenase complex deficiency

A

high fat, lots of lysine and leucine

212
Q

TCA mneumonic

A

Citrate Is Krebs Starting Substrate For Making Oxaloacetate

213
Q

How much ATP is made in 1 TCA?

A

10

214
Q

DNA polymerase I found in

A

Prokaryotes

215
Q

What inhibits prokaryotic topiosmoerases?

A

Fluroquinolones (II - DNA gyrase)

216
Q

what do tRNA wobbles cause?

A

silent mutations

217
Q

DNA ligase action

A

forms phosphodiester bond

218
Q

Primase

A

makes RN primer on which DNA polymerase III can initiate replication

219
Q

Transversion mutation

A

purine pyramidine

220
Q

DNA topiosomerases

A

create single or double stranded break in the helic to add or remove supercoils

221
Q

DNA polymerase III

A

elongates from 3’

proofreads 5’ –> 3’

222
Q

Transition mutation

A

purine to purine

pyramidine to pyrimadine

223
Q

Helicase

A

unwinds DNA at replication fork

224
Q

What inhibits eukaryotic topioisomerases?

A

etoposide/ teniposide (II)

225
Q

action of DNA polymerase I

A

degreades RNA primer, replaces it with DNA

226
Q

What does RNA polymerase I make?

A

rRNA

227
Q

What does RNA polymerase II make?

A

mRNA

228
Q

What way is protein synthesis?

A

N to C

229
Q

mRNA start codon

A

AUG (GUG)

230
Q

What a.a does AUG code for? (2)

A

Eukaryotes - methionine

Prokaryotes - N-formylmethionine (f-Met)

231
Q

What is defective in Lynch syndrome?

A

Mismatch repair

232
Q

Nucleoside excision and repair done by

A

DNA polymerase and ligase

233
Q

What does fMet stimulate?

A

neutrophil chemotaxis

234
Q

What carries out base excision repair?

A

AP-andonucleases - 5’
Lyase 3’
DNA polymerase-B
DNA ligase

235
Q

What is defective in xeroderma pugmentosum?What is the cause?

A

Nucleoside excision repair

UV light

236
Q

e.g. of Frameshift mutation

A

Duchenne muscular dystrophy

Tay-Sachs

237
Q

What signals the end of a gene?

A

Lots of As and Ts

238
Q

mRNA stop codons

A

UGA, UAA, UAG

239
Q

what does a nonsense mutation result in?

A

an early stop codon

240
Q

splice site mutation

A

retains an intron

241
Q

Where does RNA polymerase II bind?

A

Promoter region

242
Q

mechanism rifampicin

A

inhibits RNA polymerase in prokaryotes

243
Q

mechanism actinomysin D

A

inhibits all RNA polymerases

244
Q

what is the mRNA quality control?

A

P-bodies in the cytoplassm

245
Q

What is different about eukaryotic and prokaryotic RNA polymerase?

A

Only P proofreads

246
Q

What is the function of snRNPs?

A

to splice introns

247
Q

a-amanitin

A

death cap mushrooms inhibiting RNA polymerase II

248
Q

polyadenylation signal

A

AAUAAA

249
Q

When does hnRNA become mRNA?

A

When it has been capped, spliced and tailed

250
Q

What does RNA polymerase II make?

A

5s rRNA, tRNA

251
Q

what comes before mRNA

A

hnRNA, heterogenous nuclear RNA

252
Q

what are the two parts of tRNA?

A

T arm

D arm

253
Q

mischarged tRNA synthetase

A

reads usual codon but inserts wrong amino acid

254
Q

WHat does the T-arm contain? What is the functoin?

A

ribothymidine, pseudouridine cytidine

ribosome binding

255
Q

what is a the 3’ end of tRNA?

A

CCA

256
Q

function of ribozymes

A

cacalyse peptied bond

257
Q

how is protein synthesisi initiated?

A

GTP hydrolysis

258
Q

prokaryote subunits

A

30S + 50S –> 70S

259
Q

eukaryote subunits

A

40S + 60S –< 80S

260
Q

tumour supressor chain

A

p53 –> p21 –> inhibition of CKDs

261
Q

posttranslational trimming

A

removal of N or C terminal propeptides from xymogen

262
Q

cyclin function

A

control cell cycle events, activate CKDs

263
Q

e2f

A

transcription factor inhibiting G1-S progression

264
Q

microfilaments

A

contraction

265
Q

intermediate filaments

A

maintain cell structure

266
Q

labile cell types

A

divide rapidly, always in G1

267
Q

smooth ER

A

steroid synthesis, detoxification

268
Q

permanent cell types

A

remains in G0, regenerate from stem cells

269
Q

Nissl bodies

A

rough ER in neurones

270
Q

Rough ER

A

site of exported protein protein synthesis

271
Q

Microtubules e.g.

A

cilia, flaggela, mitotic spindle, axonal trafficking, centrioles

272
Q

stable cell tpyes

A

quiescent –> G1 on stimulation

273
Q

Peroxisome

A

very long chain/ branched fatty acid degredation, a.a, ethanol, B oxidation

274
Q

vimentin, desmin, cytojeratin, lamins, glial fibrillary acid proteins, neurofilaments

A

intermediated illaments

275
Q

golgi amino acid modifications

A

asparganin - N-oligosaccherides serine, threonine - O-oligosaccherides

276
Q

Desmin

A

muscle

277
Q

Ergosterol

A

found in the plasma membrane of fungi

278
Q

Kartagner syndrome

A

primary ciliary dyskinesia

279
Q

Type I collagen

A

90%

bone, skin, tendon, dentin, fascia, cornea, late wound repair

280
Q

Kinesin

A

-+ anterograde

281
Q

Dunein

A

+- retrograde

282
Q

9+ microtubule doublets

A

Cilia

283
Q

Glial fibrillar acid proteins (GFAP)

A

neuroglia

284
Q

Na/K

A

3 Na out

2 K in

285
Q

Ouabain

A

inhibits NAK ATPase by binding to K+ side

286
Q

What are microtubules?

A

polymerised heterodimers

287
Q

Cytokeratin

A

epithelial cells

288
Q

Vimentin

A

mesenchymal tissue

289
Q

What energy is used in microtubules?

A

GTP

290
Q

Drugs acting on microtubules

A

Mebendazole, griseofulvin, colchicine, vincristine/ vinblastine, paxlitaxel

291
Q

what is the marker for damaged protein?

A

ubiquitin

292
Q

euchromatin

A

less condensed
transcriptionally active
sterically acessible

293
Q

Barr bodies

A

condensed, transcriptionally inactive, inacessible

294
Q

Histone methylation

A

Not-permanent, can activate

295
Q

Nucleosome =

A

histone octomers with DNA wrapped around

296
Q

What is methylated?

A

cytosine and adenine

297
Q

Purines

A

A

G

298
Q

Which amino acids are coded for by only one codon

A

methionine

tryptophan

299
Q

nucleotide

A

base + sugar + phsophate

300
Q

purine salvage deficiency

A

adenosine deaminase deficiency

lesch-nyhan syndrome

301
Q

which amino acids are histones rich in?

A

lysine

arginine

302
Q

Which base bond is stronger

A

G-C

303
Q

Orange sand nappy

A

Lesch-Nyhan syndrome

304
Q

What is a major cause of SCID?

A

Adenoside deaminase deficiency

305
Q

X descent
absent
prominent

A

atrial relaxation
tricuspid regurg
tricuspid insufficiency, right HF

306
Q

Pyrimadines

A

CUT

307
Q

e.g. of heterochromatin

A

Barr boides

308
Q

Methylation and transcription

A

methylation at CpG islands

represses transcription

309
Q

What is increased in adenosine deaminase deficiency?

What does this cause?

A

dATP

toxicity in lymphocytes

310
Q

nucleoside

A

base + sugar

311
Q

what allows histones to be transcribed?

A

acetylation

312
Q

Which amino acids are needed for purine synthesis?

A

Glycine
Aspartate
Glutamine

313
Q

What is the replication fork?

A

Y shaped region between leading and lagging strands

314
Q

Purpose of methylation

A

ability to distinguish between old and new strands in prokaryotes

315
Q

Cause and Rx maple syrup urine disease

A

decreased branched-chain a-ketoacid dehydrogenase

restrict ilo, leu, val; B1 supplements

316
Q

musty body odour

Rx

A

phenylketonuria

increase tyrosine, decrease phenylalanine

317
Q

marfinoid, lens subluxation, kyphosis

what will you see in urine?

A

XS homocystine

Step 1 (18 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions