Block 1 2010

Front 1

When doing a chromosomal analysis - what do you need to do to prepare a karyotype?

Back 1

get smaple (amni, CVS, blood), grow in culture, bock in metaphase with colchicine, stain with Giemsa satin

Front 2

What kind of pattern do you see in a karyotpe?

Back 2

G banding pattern

Front 3

What are the light and dark spots in a karyotype called?

Back 3

light - euchromatin active
dark - heterochromatin

Front 4

Triploid vs trisomy

Back 4

triploid: 3 sets of chrosomes

trisomoy : an extra one chromosome

Front 5

What are the tree trisomy diseases?

Back 5

21 - Down syndrom
13- extra fingers, toes

Front 6

Whats the most common form of Down syndrom? least?

Back 6

common trisomy - extra 21
least translocation only 4%

Front 7

Robertosnian translocation? What does it signify?

Back 7

translocation between 14 and 21 -> gives you down syndrom
it is the chromose with extra 21 piece

Front 8

Philadelphia chromosome

Back 8

gives you CM lukemia between 9 and 22

Front 9

FISH?

Chromosome paintintg?
spectral karyotyping?

Back 9

probe gppd for certain part in chromosome
hybridize to whole chromosome
chromosomes painted in different colors

Front 10

What are the autosomal dominant diseases?

Back 10

Huntington's disese
Marfan Syndrom

Front 11

What are the unusual features of autosomal dominant diseaes?

Back 11

reduced penetrance, variable expressivity, high frequency of new muttaion

Front 12

x-linked recessive

Back 12

Duchenne Muscular Dystrophy ( weak leg muscles)

Front 13

classes of DNA polymorphisms and what are they used for?

Back 13

RFLP, VNTR, STR, SNP
for paternity and crime scene

Front 14

Disjunction

Back 14

Chromosomes moving to opposite poles of the cell

Front 15

Synaptonemal

Back 15

Describes a ribbon-like, protein-containing complex holding chromosomes together

Front 16

Syntenic

Back 16

Referring to genes residing on the same chromosome

Front 17

Choose the most appropriate molecular diagnostic method to answer the diagnostic question being asked. (Use each test only once.)(4 points)
1. Allele-specific oligonucleotides (ASO)
2. PCR then sequencing
3. Southern Blotting
4. Northern Blotting
A. Is the gene present and grossly normal in structure?
B. Is the gene transcribed?
C. Is one of a number of known mutations responsible for this disease?
D. What mutation is responsible for the disorder given that none of the known mutations have been found?

Back 17

A:3, B:4, C:1, D:2

Front 18

Which of the following statements about nondisjunction is true? (2 pts)
A. Nondisjunction is more common in sperm cells than in oocytes because sperm cells undergo many more divisions.
B. Nondisjunction at meiosis I yields gametes with a copy of each parental chromosome.
C. Nondisjunction is one of the less common cytogenetic disorders.
D. Nondisjunction at meiosis II yields gametes with a copy of each parental chromosome.

Back 18

B

Front 19

Robertsonian translocations (2 pts)
A. Are unbalanced translocations.
B. Are the most common chromosome rearrangements in humans.
C. Occur with roughly equal frequency for all autosomal chromosomes.
D. Account for Down Syndrome in about 95% of the cases.
E. Involve the deleterious loss of sole copies of genes on the p arm of chromosomes

Back 19

B

Front 20

Point mutations are more common in spermatogenesis than in oogenesis because (2 pts)
A. Spermatogenesis begins in the embryonic period and is thus more subject to errors.
B. Recombination occurs in spermatogenesis but not in oogenesis
C. Male germ cells undergo more rounds of division before making a mature gamete.
D. Spermatogonia are held in Prophase II until fertilization.
E. Spermatogenesis results in the formation of three polar bodies that often carry mutations.

Back 20

C

Front 21

Testing for diseases whose genes have not yet been identified but have at least been mapped to a particular chromosome requires (2 pts)
A. Dot blot hybridization with a pooled cocktail of ASO probes
B. PCR of several gene regions followed by serial hybridization with a panel of ASO probes
C. Manual or automated DNA sequencing
D. Hybridization to a complex oligonucleotide array ("DNA chip")
E. Linkage analysis

Back 21

E

Front 22

In Meiosis I, (2 pts)
A. Crossing over occurs during the pachytene stage of prophase I
B. Crossovers are visualized as the chiasmata or points of contacts of the two homologs during anaphase I
C. Disjunctions or separation of sister chromatids occurs during metaphase
D. Consequence is duplicating the chromosome number from n to 2n

Back 22

A

Front 23

If the normal sequence of genes on a chromosome is ABCDEFG, then a change in the sequence to AEDCBFG would be an example of a (2 pts)
A. Frame shift mutation
B. Missense mutation
C. Inversion
D. Translocation
E. Duplication

Back 23

c

Front 24

The process that allows humans to be more complex than common weeds such as Arabadopsis, despite an equivalent number of genes, is
(2 pts)
A. alternative splicing
B. nucleotide expansion
C. nucleotide polymorphisms
D. transcription
E. translation

Back 24

a

Front 25

Polymorphisms (2 pts)
A. Refer to multiple conformations observed for the same sequence of DNA
B. Refers to allelic variations that are common ( in >1% of population)
C. Are produced by insertions or deletions
D. Are produced by inversion

Back 25

b

Front 26

On which of the following measures were we ranked highest among industrialized nations (i.e. OECD) at the end of the 20th Century? (2 pts)
A. Infant survival
B. Male life expectancy
C. Female life expectancy
D. Amount spent on medical care per capita

Back 26

D

Front 27

In the gene chip illustrated below, a cDNA library made from a control, unaffected individual has been labelled with a green probe and a cDNA library made from a patient has been labelled with a red probe. Based upon the color of the spots labelled A, B, and C, we can conclude which of the following relationships? (2 pts)







A. Gene B is expressed at a higher level and gene A at a lower level in the patient than in the control, and gene C is expressed at the same level in both people.
B. The mRNA from gene A is degraded more rapidly and that from gene B less rapidly in the patient than the control, but the mRNA from gene C is equally stable for both individuals.
C. Gene B is expressed at a higher level and gene A at a lower level in the patient than the control, and gene C is not present at all in the patient.
D. The mRNA from gene A is degraded more rapidly and that from gene B less rapidly in the patient than the control, and the mRNA from gene C is not present at all in the patient.
E. Either A or B
F. Either C or D

Back 27

E

Front 28

Hypertelorism refers to (2 points)
A. Wide-set eyes
B. Cat-like cry
C. Long filtrum
D. A syndrome involving all of the above

Back 28

A

Front 29

The most common form of hereditary deafness is (2 pts)
A. Syndromic and recessive
B. Non-syndromic and recessive
C. Syndromic and dominant
D. Non-syndromic and dominant

Back 29

b

Front 30

For which of the following is aCGH better than FISH? (2 points)
A. Identifying balanced rearrangements such as translocations and inversions
B. No need for cell culture so faster turnaround time
C. High reproducibility and precise mapping of aberrations
D. Both b and c
E. All of the above

Back 30

c

Front 31

Nondisjunction of which chromosome(s) almost always lead(s) to lethality of the fetus? (2 pts)
A. chromosome 21
B. all chromosomes except 21
C. all chromosomes except 13, 18, 21, X, Y
D. chromosomes 13, 18 & 21
E. all chromosomes except for X and Y

Back 31

c

Front 32

Based upon our current understanding of the genetic basis of complex human disease, yielded primarily from the Human Genome Project, it appears that (2 pts)
A. For any complex disease, a group of genes can be identified from which the concerted action of a set of common mutations give rise to the disease.
B. Within a very few years, we are likely to be able to predict with reasonable accuracy an individual's risk of developing common complex diseases such as heart disease and prostate and breast cancer by sequencing that individuals DNA.
C. Rare mutations of severe effect are responsible for a substantial portion of complex human disease

Back 32

c

Front 33

Match the term to the correct definition. Feel free in all matching questions to use the same answer more than once. (The same answer is never repeated in this assessment, but this may be a good strategy for maximizing points when you can't decide between two answers . . .) (4 points)
1. Axial mesoderm
2. Paraxial mesoderm
3. Intermediate mesoderm
4. Lateral plate mesoderm
A. Differentiates into urogenital structures
B. Forms the notochord
C. Gives rise to the myotomes, sclerotomes, and dermatomes which ultimately form the limb and body wall musculature, the vertebral column, and the dermis and subcutaneous tissue of the skin, respectively
D. Gives rise to the parietal and visceral layers that line the embryonic cavity and surround the organs; join with overlying ectoderm to form the lateral and ventral body wall; give rise to the thin membranes that line the peritoneal, pleural and pericardial cavities; and secrete serous fluid

Back 33

A:3, B:1, C:2, D:4

Front 34

A mechanism of epigenetic inheritance is
A. DNA methylation
B. genomic imprinting
C. histone modification
D. non-coding RNAs
E. All of the above

Back 34

E

Front 35

In cancer cells, one observes _____ (increased/decreased) methylation of __________(CpG islands/repeat sequences).
A. Decreased; CpG islands
B. Decreased; repeat sequences
C. Increased; CpG islands
D. Increased; repeat sequences

Back 35

C

Front 36

The core protein of a proteoglycan molecule, such as the one illustrated above, is made on membrane-bound ribosomes and threaded into the lumen of the ER. The sugars are added and sulfated in the
A. Golgi apparatus
B. Extracellular matrix
C. Lumen of the ER
D. Secretory vesicle

Back 36

A

Front 37

Derivatives from the ____________ were most likely impaired during development to cause this syndrome.
A. Buccopharyngeal membrane
B. First and second branchial (pharyngeal) arches
C. Mesothelial membranes
D. Otic placode

Back 37

B

Front 38

In the PBL case this week, Bryce was born with microcephaly, micrognathia, and microtia. The type of morphogenesis that these exemplify is
A. Deformation
B. Disruption
C. Dysplasia
D. Malformation
E. Normal

Back 38

D

Front 39

While doing an ob/gyn residency, you deliver a pair of twins. You notice that they share a common placenta and chorionic sac but have separate amnionic cavities. These are most likely to be
A. Dizygotic twins
B. Monozygotic twins formed from splitting of the inner cell mass at a late stage of development.
C. Monozygotic twins formed from splitting of the inner cell mass early in development.
D. Monozygotic twins that split at the two-cell stage.

Back 39

C

Front 40

In the introduction to this week's PBL case, Ms. Stendahl, a Nurse Practitioner, interviewed Deena. In this interview, she asked about Deena's health, how school was going, about her activities in drama after school, about smoking and her use of drugs, and about her sexual activity. If you were writing SOAP notes, in which category would you put the information gained from these questions?
A. Subjective
B. Objective
C. Assessment
D. Plan

Back 40

A

Front 41

RU 486 functions by

A. Acting as an hCG-receptor agonist
B. Acting as a progesterone-receptor agonist
C. Inhibiting the hCG receptor
D. Inhibiting the progesterone receptor

Back 41

D

Front 42

The basement membrane provides an important barrier between an epithelial
membrane and the fibrous connective tissue bed upon which it rests. Which statement is most accurate concerning basement membranes?
A. The collagen fibers are type I collagen.
B. Fibronectin is the adhesion glycoprotein molecule that predominates in basement membranes.
C. Basement membrane is produced by both the epithelial cell and the adjacent fibroblasts.
D. H&E stain is the chosen stain to emphasize basement membranes.
E. The basement membrane is a transient structure that comes and goes based upon demands on the epithelial membrane

Back 42

C

Front 43

All major organ systems are developed (but not matured) by the end of the
A. First month of pregnancy
B. First trimester of pregnancy
C. Second trimester of pregnancy
D. Thirty-sixth week of pregnancy

Back 43

B

Front 44

Differential splicing of genes occurs at the level of the________ to yield different protein structures.
A. gene
B. mRNA
C. protein
D. tRNA

Back 44

B

Front 45

An example of genomic imprinting is
A. Covalent modification of histones
B. Differentiation of cells to form a specific tissue
C. Mosaicism
D. Paternal X inactivation

Back 45

D

Front 46

The maintenance of DNA methylation of newly formed DNA by DNA methyl transferases is important for
A. Assuring correct nucleotide sequence during DNA duplication
B. Chromosome stability
C. Inhibition of transcription
D. Transcription activation

Back 46

B

Front 47

In discussing your recommendation with the transplant patient, you point out that there is a lower risk of rejection with MFM but a higher risk that her baby will be born with a birth defect (and an even higher risk of spontaneous abortion . . . but we’ll ignore that here). She asks you what would be the decrease in risk for a birth defect with azathioprine as compared to MFM. Recalling Dr. Stevens’ lecture, you decide give her the most conservative estimate, which is determined from the
A. Absolute risk
B. Relative risk
C. Odds ratio
D. All of these give equivalent values

Back 47

A

Front 48

Deena ingested Accutane (a retinoic acid derivative) for her acne. Recalling the categories of ligands and second messenger systems discussed by Dr. Herschman, Accutane would act via the
A. Calcium/calmodulin mediated pathway
B. cyclic AMP pathway
C. Intracellular receptor pathway
D. PKC/DAG pathway

Back 48

C

Front 49

The secretory coil of the sweat gland has “leaky” tight junctions. In terms of its permeability properties, this type of tight junction
A. Allows some ions to permeate but is selective about which ions can go through.
B. Has high permeability to water and ions
C. Has high water permeability but low ion permeability
D. Is very impermeant to water and ions

Back 49

A

Front 50

Ion trapping refers to the process of
A. Blocking facilitated transport by binding an ion to a high-affinity site inside the transporter
B. Inhibiting the transport of cations by blocking anion transport and visa versa
C. Irreversible binding of a charged antagonist to a ligand-binding site
D. Restricting a drug to a particular compartment by increasing the fraction of drug in the ionized form

Back 50

D

Front 51

6.
The partition coefficient of a drug refers to its distribution between:
A. absorbed versus non-absorbed fractions
B. free and protein bound fractions
C. ionized and non-ionized forms
D. lipid (organic) and aqueous phases
E. plasma and tissue compartments

Back 51

D

Front 52

A drug administered by which route will likely have the highest bioavailability:
A. intravenously
B. nasal spray
C. subcutaneously
D. sublingually
E. transcutaneously (eg skin patch)

Back 52

A

Front 53

Sebaceous glands are not normally active until puberty; however, influenced by Mom’s hormones, babies can have active sebaceous gland function from 6 months gestation up to a few weeks into the newborn period. The dermatopathology seen in a newborn due to overactive sebaceous gland function is
A. Acne vulgaris
B. Cradle cap
C. Eczema
D. Psoriasis
E. Vernix caseosa

Back 53

B

Front 54

.
A _____ biopsy is performed to evaluate inflammatory patterns in the dermis
A. Excisional
B. Punch
C. Shave

Back 54

B

Front 55

In contrast to drugs with a high therapeutic index, drugs with a low therapeutic index
A. Can cause irreversible effects after they are administered.
B. Can cause toxicity at a high ED50.
C. Can only cause toxicity over a small range of drug doses.
D. Do not have therapeutic effects until the administered dose approaches the toxic dose.
E. Have a greater degree of safety when administered at therapeutic doses.

Back 55

D

Front 56

The rate of metabolism and excretion of most drugs increases as the concentration of the drug increases in the systemic circulation. This is an example of
A. first-order kinetics
B. high elimination half-life
C. high extraction ratios
D. saturation kinetics
E. zero-order kinetics

Back 56

A

Front 57

In The Bell Curve, Cincinnati Children’s Hospital (CCH) told the families of their CF patients that their outcomes were significantly worse than those of the best hospitals treating CF, being at best average, but that they were going to try to improve. The result of this disclosure and commitment to improve was that
A. A few families left, but CCH went on to become the leading CF clinic in the nation
B. All of the CF families continued with the CCH program
C. Most of their families left and enrolled their children in CF treatment programs at better hospitals.
D. Two of the families at CCH filed malpractice suits against their children’s doctor.

Back 57

B

Front 58

The main point made by Gawande in “The Bell Curve” was that
A. Any hospital/treatment program can be the best by just caring more about their patients.
B. Most doctors are going to be average and they just need to learn to accept that.
C. National clinical guidelines for care are a record of the past, and little more—they should have an expiration date.
D. One should always push oneself to be the best, and that means being able to learn and adapt and do so faster than others.

Back 58

D

Front 59

The 7 cardinal features of a symptom include
A. Attribution, Location, Quality
B. Location, Quality, Setting
C. Quality, Setting, Attribution
D. Setting, Attribution, Location

Back 59

B