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CRR
CRR EOU Review SAQs
2011-2012
Dombkoski
57.
Which attribute do the extracellular matrix molecules fibronectin, laminin, entactin (nidogen), and
tenascin have in common?
a. a circulating plasma form
b. a collagen-binding region that contains the tripeptide sequence RGD (Arg-Gly-Asp)
c. distribution only in the basement membranes of developing tissues and organs
d. the classification “glycoproteins”
e. their function as integrins
58.
Wound healing in the skin is mediated by various cytokines and growth factors and results in a series
of repair steps. In regard to wound healing, which one of the following molecules is most associated
with a clot?
a. fibrin
b. integrins on the surface of platelets
c. platelet-derived growth factor
d. type I collagen
e. type III collagen
59.
Wound healing in the skin is mediated by various cytokines and growth factors and results in a series
of repair steps. In regard to wound healing, which one of the following molecules is most associated
with a scar?
a. fibrin
b. fibronectin
c. type I collagen
d. type II collagen
e. type III collagen
60.
Which of the following is least likely to be present as a glycosaminoglycan within Franco
Dombkoski's extracellular matrix?
a. chondroitin sulfate
b. collagen
c. heparin
d. hyaluronic acid
e. keratan sulfate
61.
Which one of the following disaccharide repeating units is least likely to be found in a
glycosaminoglycan?
a. [GalNAc-GlcUA]
b. [GalNAc-IduUA]
c. [GlcNAc-Gal]
d. [GlcNAc-GlcUA]
e. [RibNAc-GlcUA]
62.
One of your patients has a deficiency in the enzymes that are responsible for the sulfate content of
her/his glycosaminoglycans. Which one of the following components normally has a high sulfate
content?
a. cardiolipin
b. collagen
c. glycogen
d. heparin
e. hyaluronic acid
1
CRR
CRR EOU Review SAQs
2011-2012
Disease
Blood
Acute intermittent porphyria
ALA dehydratase deficiency porphyria
Inheritance
Defect
Autosomal dominant
Autosomal recessive
porphobilinogen-deaminase
d-aminolevulinic acid
dehydratase
(porphobilinogen synthase)
α2-Plasmin inhibitor deficiency
Antithrombin deficiency
Coproporphyria
Hemophilia A
Autosomal recessive
Autosomal dominant
Autosomal dominant
X-linked
Hemophilia B
Hereditary elliptocytosis
spherocytic elliptocytosis
Southeast Asian ovalocytosis
Hereditary pyropoikilocytosis
Hereditary spherocytosis
X-linked
Autosomal dominant
Factor II deficiency
Factor V deficiency
Factor VII deficiency
Factor X deficiency
Autosomal recessive
Autosomal recessive
Autosomal dominant
Autosomal recessive
Autosomal recessive
Autosomal recessive
Factor XI deficiency
Autosomal
Factor XIII deficiency
Glanzmann thrombasthenia
Autosomal recessive
Neuroacanthocytosis
abetalipoproteinemia/aprebetalipoproteinemia
(chromosome 2)
chorea-acanthocytosis syndrome (band 9q21)
Protein C deficiency
Protein S deficiency
Sickle cell anemia
Thalassemia (β+)
Thalassemia (β-0)
Thalassemia (α)
Hemoglobin H
von Willebrand disease
Heart
Hypertrophic cardiomyopathy
Antithrombin III
coproporphyrinogen oxidase
Factor VIII (antihemophilic
globulin)
Factor IX
Spectrin (α or β),
glycophorin C, or band 4.1
Spectrin
α-Spectrin
β-spectrin
Factor II (prothrombin)
Factor X (Stuart-Prower
factor)
Factor XI (plasma
thromboplastin antecedent)
glycoprotein IIb/IIIa (GP
IIb/IIIa) complex
Autosomal recessive
X-linked (McLeod
phenotype)
Autosomal dominant
Autosomal dominant
Autosomal codominant
Autosomal dominant or
recessive
Autosomal dominant
Long QT syndrome (LQT1)
LQT2
LQT3
LQT4
LQT5
LQT6
LQT7 (Anderson syndrome)
LQT8 (Timothy syndrome)
LQT9
LQT10
LQT11
2


β-globin
Decreased β
Absence of β
Deletion of 2α (aa/oo,ao/ao)
Deletion of 3α (oo/ao)
von Willebrand factor
myosin heavy chain, actin,
tropomyosin, and titin
KVLQT1, or KCNQ1 (hetero)
HERG, KCNH2
SCN5A
ANK2, ANKB
KCNE1 (hetero)
MiRP1, KNCE2
KCNJ2
CACNA1C
CAV3
SCN4B
AKAP9
CRR
CRR EOU Review SAQs
LQT12
JLN1
JLN2
Marfan syndrome
Noonan syndrome
Kidneys
Alport syndrome
Bartter syndrome (Type I)
Type II
Type III
Type IV
Type V
Gitelman syndrome
Familial renal amyloidosis
Autosomal dominant
Autosomal dominant or
sporatic
X-linked
Autosomal dominant
Autosomal recessive
Autosomal recessive or
sporatic
Autosomal dominant
Hartnup disease
Autosomal recessive
Polycystic kidney disease
Autosomal dominant
Autosomal recessive
von Hippel-Lindau disease
Autosomal dominant
Lungs
α1-Antitrypsin deficiency
Cystic fibrosis
Autosomal recessive
Kartagener syndrome
Autosomal recessive
Metabolism (Lipids, Urea cycle)
N-acetylglutamate synthetase deficiency
Apo C-II deficiency
Arginase deficiency
Argininosuccinate lyase deficiency
Argininosuccinic acid synthase deficiency
Autosomal recessive
Autosomal recessive
Autosomal recessive
Autosomal recessive
Autosomal recessive
Carbamoyl phosphate synthetase deficiency
Autosomal recessive
Familial hypercholesterolemia
Glucose-6-phosphate dehydrogenase
deficiency
Glutathione synthetase deficiency
Lecithin-cholesterol acyltransferase
deficiency
Lipoprotein lipase deficiency
Medium-chain Acyl-CoA dehydrogenase
deficiency
Ornithine transcarbamylase deficiency
Autosomal dominant
X-linked
Autosomal recessive
Autosomal recessive
Autosomal recessive
X-linked
3
2011-2012
SNTAI
KVLQT1, or KCNQ1 (homo)
KCNE1 (homozygotes)
fibrillin-1 (FBN1)
PTPN11, SOS1, RAF1, and
KRAS
Type IV collagen (COL4A3,
COL4A4, COL4A5)
NKCC2
ROMK
CLCNKB
BSND
CLCNKB and CLCNKA
NCCT
lysozyme, apolipoprotein AI,
apolipoprotein AII, and
fibrinogen A α-chain
sodium-dependent and
chloride-independent neutral
amino acid transporter
(SLC6A19)
Polycystin 1 (PKD1) and
polycystin 2 (PKD2)
Fibrocystin/polyductin
(PKDHD1)
von Hippel-Lindau proteins
(pVHL)
α1-antitrypsin
cystic fibrosis
transmembrane conductance
regulator (CFTR)
Dynein (DNAH5 and
DNA11)
N-acetylglutamate synthetase
apo C-II
Arginase
Argininosuccinate lyase
Argininosuccinic acid
synthase
Carbamoyl phosphate
synthetase
LDL receptor dysfunction
Glucose-6-phosphate
dehydrogenase
Glutathione synthetase
Lecithin-cholesterol
acyltransferase
Lipoprotein lipase
Medium-chain Acyl-CoA
dehydrogenase
Ornithine transcarbamylase
CRR
CRR EOU Review SAQs
Pyruvate kinase deficiency
Sitosterolemia
Autosomal recessive
Autosomal recessive
2011-2012
Pyruvate kinase
ABC transporters (ABCG8
and ABCG5)
Johnson
6.
The definitive diagnosis of sickle cell disease is achieved by:
a. nuclear scan of bone marrow.
b. hemoglobin electrophoresis.
c. MCV & MCHC from a complete blood count.
d. polymerase chain reaction analysis of cheek cell DNA.
e. karyotyping from metaphase cells.
10.
The existence of homozygous sickle cell disease can be detected in the first trimester of pregnancy
by which one of the following?
a. sampling of umbilical blood and hemoglobin electrophoresis
b. genetic analysis of the parents
c. DNA analysis of chorionic villus fetal cells
d. homozygous sickle cell disease cannot be detected antenatally
e. chemistry and metabolic screening panels
11.
The presence of Howell-Jolly bodies in the peripheral blood smear of a patient with sickle cell
disease indicates that:
a. HbS is present in some cells.
b. the rate of red blood cell synthesis is impaired.
c. the function of the spleen is intact.
d. the function of the spleen is impaired.
e. significant intravascular hemolysis is occurring.
21.
In the adult human, which of the beta-type hemoglobin genes is least likely to be expressed?
a. beta
b. delta
c. gammaA
d. gammaG
e. epsilon
29.
A 20-year-old male is a compound heterozygote with a sickle cell allele and a beta null allele.
Which is the most likely distribution pattern that will be observed in hemoglobin electrophoresis,
given the distribution of a normal 20-year-old male is hemoglobin A (HbA)=98%, hemoglobin S
(HbS)=0%, hemoglobin A2 (HbA2)=1%, and hemoglobin F (HbF)=<1%?
a. HbA=98%, HbS=0%, HbA2=1%, HbF=1%
b. HbA=50%, HbS=50%, HbA2=<1%, HbF=<1%
c. HbA=20%, HbS=60%, HbA2=5%, HbF=15%
d. HbA=0%, HbS=80%, HbA2=5%, HbF=15%
e. HbA=75%, HbS=24%, HbA2=1%, HbF=<1%
32.
The predominant form of hemoglobin present in an 18-week-old human fetus is:
a. alpha 2, beta 2.
b. alpha 2, gamma 2.
c. zeta 2, epsilon 2.
d. zeta 2, gamma 2.
e. alpha 2, delta 2.
33.
The predominant form of hemoglobin present in a human adult is:
a. alpha 2, beta 2.
4
CRR
CRR EOU Review SAQs
b.
c.
d.
e.
alpha 2, gamma 2.
zeta 2, epsilon 2.
zeta 2, gamma 2.
alpha 2, delta 2.
5
2011-2012
CRR
CRR EOU Review SAQs
Sickle Cell Disease
(>6 major genoty pes)
at least 1 sickle gene, hemoglobin S ( HbS) і 50% Hb present.
homozygotic HbSS(sickle cell anemia) - HbS = 100% Hb present
HbS-beta-0 thalassemia - Sev ere double heterozy gote for HbS and beta-0 thalassemia;
almost indistinguishable f rom sickle cell anemiaphenoty pically (MCV low)
HbSC disease - Double heterozy gote f or HbS and HbC, with intermediate clinical sev erity
HbS/hereditary persistence of fetal hemoglobin (S/HPHP) - Mild form or sy mptom free
HbS/HbE syndrome - Rare and generally mild clinical course
Rare combinations of HbS with HbD Los Angeles, HbO Arab, G-Philadelphia, among others
http://www. emedicine.com/ped/TOPIC2096.HTM
Hemoglobin Electrophoresis
Homozygous
HbS
Heterozygous
HbS
Normal
adult
Normal
neonate
HbSC
http://themedicalbiochemistry page.org/hemoglobin-my oglobin.html
6
2011-2012
CRR
CRR EOU Review SAQs
Laboratory Studies
Hb Electrophoresis
HbA 1
HbA 2
HbF
HbS
HbC
0% (N=95-98)
3% (N=2-3)
7% (N=0.8-2)
90% (N=0)
0% (N=0)
7
2011-2012