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M2M Unit 4 > Random > Flashcards

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1
Q

You are evaluating a 4 year-old girl referred from a nutritionist for severe obesity. The past medical history is notable for decreased fetal movements, severe hypotonia for the first year of life, strabismus, and mild intellectual disability. At age three-years she began to rapidly gain weight and is now obsessed with food to the point that her parents have to carefully control food in the home. Which of the following tests has the best chance of confirming the likely diagnosis?
A. Growth hormone levels B. Methylation studies of chromosome 15q11-q13
C. High resolution chromosome analysis in her father
D. Sequencing of the UBE3A gene E. FISH deletion testing for PRader Willi/Angelman Syndrome

A

B. Methylation studies of chromosome 15q11-q13

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2
Q

A 5-year-old girl presents with classic Duchenne Muscular Dystrophy, an X-linked recessive disorder. Which of the following explanations could best explain this unsual occurrence?
A. An Xp chromosomal deletion that includes the DYSTROPHIN gene (the gene mutated in Duchenne Muscular Dystrophy)
B. An unbalanced X-autosomal chromosomal translocation that transects the DYSTROPHIN gene.
C. X linked testicular feminization
D. Autosomal translocation of SRY

A

C. X linked testicular feminization

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3
Q

A pregnant woman and her husband are referred for genetic counseling regarding their risk of having a second child with Duchenne Muscular Dystrophy. There is no history of his DMD disease in her family. What is the best estimate of their risk
that this fetus will have DMD?
A. 50% B. 33% C. 25% D. 17%

A

D. 17%

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4
Q

Which of the following best describes the frequency of occurrence of a medical problem in Down Syndrome?
A. Seizures in 25%
B. Thyroid disease in 25% C. Webbed neck in 25%
D. Autism in 50%
E. Horseshoe kidneys in 50% F. Structural GI tract defects in 50%

A

B. Thyroid disease in 25%

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5
Q

Which of the following approaches have been highly successful when applied to discovery of genes involved in susceptibility to common “complex” diseases such as type 1 diabetes, asthma, coronary artery disease, and many others?
A. Candidate gene DNA sequencing analysis
B. Candidate gene association studies
C. Genomewide genetic linkage studies
D. Genomewide association studies
E. All of the above

A

Genomewide association studies

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6
Q

A man is affected with an X linked dominant disorder which has a penetrance of 60%. His wife is homozygous normal at this locus. What is the probability that his first daughter will be affected?
A. 25% B. 40% C. 50% D. 60% E. 100%

A

D

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7
Q

An African American couple comes to the clinic for counseling because the husband’s brother is affected with sickle cell anemia. Neither the husband nor wife is are anemic. The population carrier rate for heterozygotes in the African American community is approximately 1 in 12. What is the risk that this couple will have a child with sickle cell anemia

A

1/72

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8
Q

Common methylation on DNA

A

5- methylcytosine

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9
Q

if 5 methylcytosine is deaminated….

A

Thymine

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10
Q

deamination of cytosine….

A

uracil

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11
Q

Origin of replication usually rich in

A

A-T repeats

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12
Q

Origin binding proteins in eukaryotes and prokaryotes

A

E- ORC

P- DNAA

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13
Q

Helicases in P and E

A

E- MCM

P- DnaB

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14
Q

SSBPs in P and E

A

E- RPA

P- SSB

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15
Q

Common alkylation of DNA

A

0-6 methylguanine

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16
Q

O6 methylguanin->

A

A

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17
Q

Enzymes that fix 06 methylguanine

A

methyltransferase

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18
Q

CTD of Pol ___ is phosphorylated by ____ subunit of ____

A

II
CDK7
TFIIH

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19
Q

How far is the TATA box from start site?

A

30 bp upstream

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20
Q

alpha amantin is a ____ inhibitor of RNA pol

A

Non competitive

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21
Q

Aspirin inhibits ___

A

degradation of IKB

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22
Q

Strong helix formers

A

Alanine and leucine

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23
Q

Helix breakers

A

Proline and glycine

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24
Q

Prions are rich in ____

A

beta sheets

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25
Q

____ read sequencers are useful for linking contiguous polymorphisms on the same haplotype

A

Long-read sequencers

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26
Q

52 BP1 ->

A

NHEJ

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27
Q

BRCA 1 ->

A

HR

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28
Q

HR depends on the presence of

A

Sister chromatids

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29
Q

Misregulated HR can lead to

A

Loss of heterozygosity

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30
Q

Enzyme that clears out beta amyloid

A

APOE

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31
Q

variation of APOE that is not very good at clearing out beta amyloid

A

apo 4

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32
Q

Competitive inhibitor effect on lineweaver burke plot

A

changes slope

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33
Q

Noncompetitive inhibitor effect on lineweaver burke plot

A

Changes y intercept

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34
Q

Percentage of genes in human genome that are imprinted

A
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35
Q

PKU defects

A

-Phenylalanine Hydroxylase defect (98%)
 Catalyzes conversion of Phe Tyr

-PAH cofactor BH4 defect (1-2%)
-Defect in BH4 synthesis and recycling
-BH4 important in monoamine neurotransmitter synthesis

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36
Q

Sickle cell anemia is autosomal ___

A

Recessive

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37
Q

Alpha thal trait common in Africa, Mediterranean and Asia

A

alpha thal 2

a-/a-

38
Q

HbH

A

(a-/–)

39
Q

alpha thal trait common in SE Asia

A

alpha thal 1

–

40
Q

Achondroplasia mutation

A

FGFR3

gain of function

41
Q

Inheritance of Achondroplasia

A

AD

42
Q

Inheritance of tuberous sclerosis

A

AD

43
Q

Inheritance of osteogenesis Imperfecta

A

AD

44
Q

Inheritance of Marfan

A

AD

45
Q

Mutation of Marfan

A

FBN1

46
Q

Huntington inheritance

A

AD

47
Q

Paternal transmission bias Huntington

A

maternal- later onset

paternal- early onset

48
Q

Hemophilia A inheritance

A

XR

49
Q

Duchene muscular dystrophy inheritance

A

XR

50
Q

HNPP

A

Deletion of PMP22

51
Q

Charcot-Marie Tooth

A

duplication of PMP22

Autosomal dominant

52
Q

Fabry occurs with a deficiency of

A

alpha-galactosidase A

53
Q

Limited insertion size of retroviral gene therapy

A

7-8 KB

54
Q

Achondroplasia nucleotide mutation

A

Gly380Arg

55
Q

Extraintestinal manifestation IBD

A

Erythema nodosum

56
Q

Anal fistulas Crohn’s vs. Ulcerative Colitis

A

common in Crohn’s

rare in UC

57
Q

Insulin release from beta cell

A
  • glucose enters through GLUT2 transporter
  • glycolysis, increasing intracellular atp/adp ratio
  • close atp sensitive potassium channel
  • opens voltage gated calcium channel
  • exocytosis of insulin
58
Q

H/K exchanger

A

nonexistent

59
Q

3 ways Na/Cl absorption into blood

A
  1. Na, Cl, and water leak in on apical side
  2. Na, Cl, and water leak through shunt pathway
  3. Na/2Cl/K cotransporter on apical side
60
Q

Role of Na/K pump in action potential

A

Restores concentrations of Na and K

61
Q

First stage of MS

A

inflammation

62
Q

Later stage of MS

A

Neurodegeneration

63
Q

Consequences of MS (2)

A
  • decreased speed of conduction in nerves

- harder to depolarize due to constant leak of K out of cell (hyperpolarization)

64
Q

Na channel blockers used in treatment of MS

A

phenytoin, flecainidine

65
Q

K channel blockers in treatment of MS

A

Dalfampridine

66
Q

Specific transporter of RanGDP into nucleus

A

NFT2

67
Q

Karyopherin for mRNA and rRNA

A

NXF1/NXT1

68
Q

Size cut off for nuclear import/export

A

20-30 KD

69
Q

ER resident sequence

A

KDEL

70
Q

Lysosome signal sequence

A

KFERQ (chaperone mediated autophagy)

mannose 6 phosphate

71
Q

Function of N linked glycosylation

A
  • keep proteins from aggregating

- monitor unfolded

72
Q

Enzymes used in ubiquination

A

E1, E2, and E3

73
Q

Alpha subunit of proteosome

A

Regulate substrate entry into death chamber

74
Q

Beta subunit of proteosome

A

Actual clipping of subunits

75
Q

Autophagy is induced by

A

nutrient starvation

76
Q

Vesicle nucleation macroautophagy

A

activate a PI3K complex

77
Q

CytC-> ____ -> _____ -> ______

A

Apaf-1-> caspase 9 -> caspase 3

78
Q

Structure of microtubule

A

alpha and beta heterodimer

79
Q

Functions of bones

A
  • ca homeostasis

- protect hematopoetic tissue

80
Q

Function of hyaline cartilage (4)

A
  • Allows metabolites to readily diffuse through tissue
  • Promotes resiliency to compression forces during joint movement
  • Allows growth of chondrocytes and matrix from within the matrix
  • During growth can calcify and attract cells that initiate bone formation
81
Q

Location of osteoprogenitor cells

A

periosteal and endosteal surfaces

82
Q

location of osteoblast

A

line inner layers of peiosteal and endosteal surfaces

83
Q

parathyroid hormone

A

calcium liberation

84
Q

calcitonin

A

calcium uptake in bone

85
Q

ALK fuses with

A

EML4

86
Q

Diapedesis

A

leukocytes crossing vessel walls (post capillary venules)

87
Q

Defect in one-way flap valves in veins

A

varicose veins

88
Q

How blood flow is regulated in capillary beds

A
  1. Arterio-venous shunts and metaarterioles

2. one red blood cell can fit in its diameter

89
Q

Majority of mutations in HCM are ____

A

Missense

90
Q

Muscle cell phenotype HCM (4)

A
  1. Cardiomyocyte and cardiac hypertrophy
  2. Myocyte disarray
  3. Fibrosis
  4. Dysplastic intramyocardial arterioles
91
Q

Treatment of MH

A

IV dantrolene

M2M Unit 4 (2 decks)

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